char = M;code = 77 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = h;code = 104 char = o;code = 111 char = t;code = 116 char = s;code = 115 char = p;code = 112 char = o;code = 111 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = h;code = 104 char = u;code = 117 char = m;code = 109 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = r;code = 114 char = p;code = 112 char = h;code = 104 char = o;code = 111 char = b;code = 98 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = n;code = 110 char = o;code = 111 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = n;code = 110 char = a;code = 97 char = s;code = 115 char = e;code = 101 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = :;code = 58 char = ;code = 32 char = r;code = 114 char = e;code = 101 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = r;code = 114 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = G;code = 71 char = 1;code = 49 char = 1;code = 49 char = 1;code = 49 char = R;code = 82 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = R;code = 82 char = 1;code = 49 char = 7;code = 55 char = 3;code = 51 char = Q;code = 81 char = ;code = 32 char = o;code = 111 char = c;code = 99 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = r;code = 114 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = a;code = 97 char = t;code = 116 char = ;code = 32 char = C;code = 67 char = p;code = 112 char = G;code = 71 char = ;code = 32 char = m;code = 109 char = o;code = 111 char = t;code = 116 char = i;code = 105 char = f;code = 102 char = s;code = 115 char = .;code = 46 result sql = Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.char = A;code = 65 char = c;code = 99 char = u;code = 117 char = t;code = 116 char = e;code = 101 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = t;code = 116 char = e;code = 101 char = r;code = 114 char = m;code = 109 char = i;code = 105 char = t;code = 116 char = t;code = 116 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = r;code = 114 char = p;code = 112 char = h;code = 104 char = y;code = 121 char = r;code = 114 char = i;code = 105 char = a;code = 97 char = ;code = 32 char = (;code = 40 char = A;code = 65 char = I;code = 73 char = P;code = 80 char = );code = 41 char = ;code = 32 char = i;code = 105 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = h;code = 104 char = e;code = 101 char = r;code = 114 char = i;code = 105 char = t;code = 116 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = s;code = 115 char = o;code = 111 char = r;code = 114 char = d;code = 100 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = e;code = 101 char = m;code = 109 char = ;code = 32 char = b;code = 98 char = i;code = 105 char = o;code = 111 char = s;code = 115 char = y;code = 121 char = n;code = 110 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = t;code = 116 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = h;code = 104 char = w;code = 119 char = a;code = 97 char = y;code = 121 char = ;code = 32 char = c;code = 99 char = a;code = 97 char = u;code = 117 char = s;code = 115 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = b;code = 98 char = y;code = 121 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = r;code = 114 char = t;code = 116 char = i;code = 105 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = f;code = 102 char = i;code = 105 char = c;code = 99 char = i;code = 105 char = e;code = 101 char = n;code = 110 char = c;code = 99 char = y;code = 121 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = r;code = 114 char = p;code = 112 char = h;code = 104 char = o;code = 111 char = b;code = 98 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = n;code = 110 char = o;code = 111 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = ;code = 32 char = (;code = 40 char = P;code = 80 char = B;code = 66 char = G;code = 71 char = );code = 41 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = n;code = 110 char = a;code = 97 char = s;code = 115 char = e;code = 101 char = .;code = 46 char = ;code = 32 char = T;code = 84 char = o;code = 111 char = ;code = 32 char = d;code = 100 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = ,;code = 44 char = ;code = 32 char = m;code = 109 char = o;code = 111 char = r;code = 114 char = e;code = 101 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = 2;code = 50 char = 0;code = 48 char = 0;code = 48 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = f;code = 102 char = f;code = 102 char = e;code = 101 char = r;code = 114 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = v;code = 118 char = e;code = 101 char = ;code = 32 char = b;code = 98 char = e;code = 101 char = e;code = 101 char = n;code = 110 char = ;code = 32 char = i;code = 105 char = d;code = 100 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = i;code = 105 char = f;code = 102 char = i;code = 105 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = P;code = 80 char = B;code = 66 char = G;code = 71 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = n;code = 110 char = a;code = 97 char = s;code = 115 char = e;code = 101 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = ;code = 32 char = (;code = 40 char = P;code = 80 char = B;code = 66 char = G;code = 71 char = D;code = 68 char = );code = 41 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = A;code = 65 char = I;code = 73 char = P;code = 80 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = f;code = 102 char = r;code = 114 char = o;code = 111 char = m;code = 109 char = ;code = 32 char = v;code = 118 char = a;code = 97 char = r;code = 114 char = i;code = 105 char = o;code = 111 char = u;code = 117 char = s;code = 115 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = u;code = 117 char = n;code = 110 char = t;code = 116 char = r;code = 114 char = i;code = 105 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = e;code = 101 char = t;code = 116 char = h;code = 104 char = n;code = 110 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = g;code = 103 char = r;code = 114 char = o;code = 111 char = u;code = 117 char = p;code = 112 char = s;code = 115 char = .;code = 46 char = ;code = 32 char = W;code = 87 char = h;code = 104 char = i;code = 105 char = l;code = 108 char = e;code = 101 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = m;code = 109 char = a;code = 97 char = j;code = 106 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = t;code = 116 char = y;code = 121 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = P;code = 80 char = B;code = 66 char = G;code = 71 char = D;code = 68 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ,;code = 44 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = c;code = 99 char = l;code = 108 char = u;code = 117 char = d;code = 100 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = m;code = 109 char = o;code = 111 char = s;code = 115 char = t;code = 116 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = c;code = 99 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = r;code = 114 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = a;code = 97 char = t;code = 116 char = ;code = 32 char = C;code = 67 char = p;code = 112 char = G;code = 71 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = n;code = 110 char = u;code = 117 char = c;code = 99 char = l;code = 108 char = e;code = 101 char = o;code = 111 char = t;code = 116 char = i;code = 105 char = d;code = 100 char = e;code = 101 char = s;code = 115 char = ,;code = 44 char = ;code = 32 char = a;code = 97 char = r;code = 114 char = e;code = 101 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = -;code = 45 char = s;code = 115 char = p;code = 112 char = e;code = 101 char = c;code = 99 char = i;code = 105 char = f;code = 102 char = i;code = 105 char = c;code = 99 char = ,;code = 44 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = f;code = 102 char = e;code = 101 char = w;code = 119 char = ;code = 32 char = C;code = 67 char = p;code = 112 char = G;code = 71 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = v;code = 118 char = e;code = 101 char = ;code = 32 char = b;code = 98 char = e;code = 101 char = e;code = 101 char = n;code = 110 char = ;code = 32 char = o;code = 111 char = b;code = 98 char = s;code = 115 char = e;code = 101 char = r;code = 114 char = v;code = 118 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = n;code = 110 char = u;code = 117 char = m;code = 109 char = b;code = 98 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = A;code = 65 char = I;code = 73 char = P;code = 80 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = E;code = 69 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = e;code = 101 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = g;code = 103 char = i;code = 105 char = n;code = 110 char = .;code = 46 char = ;code = 32 char = T;code = 84 char = o;code = 111 char = ;code = 32 char = s;code = 115 char = t;code = 116 char = u;code = 117 char = d;code = 100 char = y;code = 121 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = g;code = 103 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = s;code = 115 char = e;code = 101 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = m;code = 109 char = m;code = 109 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = C;code = 67 char = p;code = 112 char = G;code = 71 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ,;code = 44 char = ;code = 32 char = e;code = 101 char = i;code = 105 char = g;code = 103 char = h;code = 104 char = t;code = 116 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = t;code = 116 char = r;code = 114 char = a;code = 97 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = s;code = 115 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = l;code = 108 char = e;code = 101 char = -;code = 45 char = n;code = 110 char = u;code = 117 char = c;code = 99 char = l;code = 108 char = e;code = 101 char = o;code = 111 char = t;code = 116 char = i;code = 105 char = d;code = 100 char = e;code = 101 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = l;code = 108 char = y;code = 121 char = m;code = 109 char = o;code = 111 char = r;code = 114 char = p;code = 112 char = h;code = 104 char = i;code = 105 char = s;code = 115 char = m;code = 109 char = s;code = 115 char = ;code = 32 char = (;code = 40 char = S;code = 83 char = N;code = 78 char = P;code = 80 char = s;code = 115 char = );code = 41 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = P;code = 80 char = B;code = 66 char = G;code = 71 char = D;code = 68 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = ,;code = 44 char = ;code = 32 char = a;code = 97 char = s;code = 115 char = ;code = 32 char = w;code = 119 char = e;code = 101 char = l;code = 108 char = l;code = 108 char = ;code = 32 char = a;code = 97 char = s;code = 115 char = ;code = 32 char = e;code = 101 char = i;code = 105 char = g;code = 103 char = h;code = 104 char = t;code = 116 char = ;code = 32 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = r;code = 114 char = o;code = 111 char = s;code = 115 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = l;code = 108 char = l;code = 108 char = i;code = 105 char = t;code = 116 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = f;code = 102 char = l;code = 108 char = a;code = 97 char = n;code = 110 char = k;code = 107 char = i;code = 105 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = e;code = 101 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = c;code = 99 char = h;code = 104 char = r;code = 114 char = o;code = 111 char = m;code = 109 char = o;code = 111 char = s;code = 115 char = o;code = 111 char = m;code = 109 char = e;code = 101 char = ;code = 32 char = 1;code = 49 char = 1;code = 49 char = ;code = 32 char = w;code = 119 char = e;code = 101 char = r;code = 114 char = e;code = 101 char = ;code = 32 char = u;code = 117 char = s;code = 115 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = t;code = 116 char = o;code = 111 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = t;code = 116 char = r;code = 114 char = u;code = 117 char = c;code = 99 char = t;code = 116 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = p;code = 112 char = l;code = 108 char = o;code = 111 char = t;code = 116 char = y;code = 121 char = p;code = 112 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = s;code = 115 char = i;code = 105 char = x;code = 120 char = ;code = 32 char = A;code = 65 char = I;code = 73 char = P;code = 80 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = G;code = 71 char = e;code = 101 char = r;code = 114 char = m;code = 109 char = a;code = 97 char = n;code = 110 char = ,;code = 44 char = ;code = 32 char = P;code = 80 char = o;code = 111 char = l;code = 108 char = i;code = 105 char = s;code = 115 char = h;code = 104 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = S;code = 83 char = w;code = 119 char = i;code = 105 char = s;code = 115 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = g;code = 103 char = i;code = 105 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = w;code = 119 char = h;code = 104 char = o;code = 111 char = ;code = 32 char = c;code = 99 char = a;code = 97 char = r;code = 114 char = r;code = 114 char = i;code = 105 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = e;code = 101 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = G;code = 71 char = 1;code = 49 char = 1;code = 49 char = 1;code = 49 char = R;code = 82 char = ;code = 32 char = (;code = 40 char = 4;code = 52 char = 7;code = 55 char = 0;code = 48 char = 7;code = 55 char = G;code = 71 char = >;code = 62 char = A;code = 65 char = );code = 41 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = ;code = 32 char = R;code = 82 char = 1;code = 49 char = 7;code = 55 char = 3;code = 51 char = Q;code = 81 char = ;code = 32 char = (;code = 40 char = 6;code = 54 char = 3;code = 51 char = 9;code = 57 char = 1;code = 49 char = G;code = 71 char = >;code = 62 char = A;code = 65 char = );code = 41 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = .;code = 46 char = ;code = 32 char = A;code = 65 char = m;code = 109 char = o;code = 111 char = n;code = 110 char = g;code = 103 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = r;code = 114 char = e;code = 101 char = e;code = 101 char = ;code = 32 char = R;code = 82 char = 1;code = 49 char = 7;code = 55 char = 3;code = 51 char = Q;code = 81 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = i;code = 105 char = e;code = 101 char = s;code = 115 char = ,;code = 44 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = r;code = 114 char = e;code = 101 char = e;code = 101 char = ;code = 32 char = d;code = 100 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = i;code = 105 char = n;code = 110 char = c;code = 99 char = t;code = 116 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = p;code = 112 char = l;code = 108 char = o;code = 111 char = t;code = 116 char = y;code = 121 char = p;code = 112 char = e;code = 101 char = s;code = 115 char = ;code = 32 char = w;code = 119 char = e;code = 101 char = r;code = 114 char = e;code = 101 char = ;code = 32 char = f;code = 102 char = o;code = 111 char = u;code = 117 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = t;code = 116 char = o;code = 111 char = ;code = 32 char = b;code = 98 char = e;code = 101 char = ;code = 32 char = c;code = 99 char = o;code = 111 char = s;code = 115 char = e;code = 101 char = g;code = 103 char = r;code = 114 char = e;code = 101 char = g;code = 103 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = w;code = 119 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = .;code = 46 char = ;code = 32 char = O;code = 79 char = n;code = 110 char = e;code = 101 char = ;code = 32 char = S;code = 83 char = w;code = 119 char = i;code = 105 char = s;code = 115 char = s;code = 115 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = o;code = 111 char = n;code = 110 char = e;code = 101 char = ;code = 32 char = G;code = 71 char = e;code = 101 char = r;code = 114 char = m;code = 109 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = G;code = 71 char = 1;code = 49 char = 1;code = 49 char = 1;code = 49 char = R;code = 82 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = s;code = 115 char = h;code = 104 char = a;code = 97 char = r;code = 114 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = p;code = 112 char = a;code = 97 char = r;code = 114 char = t;code = 116 char = i;code = 105 char = a;code = 97 char = l;code = 108 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = t;code = 116 char = r;code = 114 char = a;code = 97 char = g;code = 103 char = e;code = 101 char = n;code = 110 char = i;code = 105 char = c;code = 99 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = d;code = 100 char = ;code = 32 char = i;code = 105 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = e;code = 101 char = x;code = 120 char = t;code = 116 char = e;code = 101 char = n;code = 110 char = d;code = 100 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = m;code = 109 char = i;code = 105 char = c;code = 99 char = r;code = 114 char = o;code = 111 char = s;code = 115 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = l;code = 108 char = l;code = 108 char = i;code = 105 char = t;code = 116 char = e;code = 101 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = p;code = 112 char = l;code = 108 char = o;code = 111 char = t;code = 116 char = y;code = 121 char = p;code = 112 char = e;code = 101 char = ,;code = 44 char = ;code = 32 char = w;code = 119 char = h;code = 104 char = e;code = 101 char = r;code = 114 char = e;code = 101 char = a;code = 97 char = s;code = 115 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = P;code = 80 char = o;code = 111 char = l;code = 108 char = i;code = 105 char = s;code = 115 char = h;code = 104 char = ;code = 32 char = G;code = 71 char = 1;code = 49 char = 1;code = 49 char = 1;code = 49 char = R;code = 82 char = ;code = 32 char = f;code = 102 char = a;code = 97 char = m;code = 109 char = i;code = 105 char = l;code = 108 char = y;code = 121 char = ;code = 32 char = s;code = 115 char = h;code = 104 char = o;code = 111 char = w;code = 119 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = a;code = 97 char = ;code = 32 char = u;code = 117 char = n;code = 110 char = i;code = 105 char = q;code = 113 char = u;code = 117 char = e;code = 101 char = ;code = 32 char = h;code = 104 char = a;code = 97 char = p;code = 112 char = l;code = 108 char = o;code = 111 char = t;code = 116 char = y;code = 121 char = p;code = 112 char = e;code = 101 char = .;code = 46 char = ;code = 32 char = T;code = 84 char = h;code = 104 char = e;code = 101 char = s;code = 115 char = e;code = 101 char = ;code = 32 char = r;code = 114 char = e;code = 101 char = s;code = 115 char = u;code = 117 char = l;code = 108 char = t;code = 116 char = s;code = 115 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = d;code = 100 char = i;code = 105 char = c;code = 99 char = a;code = 97 char = t;code = 116 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = a;code = 97 char = t;code = 116 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = r;code = 114 char = e;code = 101 char = c;code = 99 char = u;code = 117 char = r;code = 114 char = r;code = 114 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = ;code = 32 char = C;code = 67 char = p;code = 112 char = G;code = 71 char = ;code = 32 char = m;code = 109 char = u;code = 117 char = t;code = 116 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = a;code = 97 char = t;code = 116 char = ;code = 32 char = e;code = 101 char = x;code = 120 char = i;code = 105 char = s;code = 115 char = t;code = 116 char = ;code = 32 char = i;code = 105 char = n;code = 110 char = ;code = 32 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = ;code = 32 char = E;code = 69 char = u;code = 117 char = r;code = 114 char = o;code = 111 char = p;code = 112 char = e;code = 101 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = A;code = 65 char = I;code = 73 char = P;code = 80 char = ;code = 32 char = p;code = 112 char = o;code = 111 char = p;code = 112 char = u;code = 117 char = l;code = 108 char = a;code = 97 char = t;code = 116 char = i;code = 105 char = o;code = 111 char = n;code = 110 char = ;code = 32 char = c;code = 99 char = a;code = 97 char = n;code = 110 char = ;code = 32 char = b;code = 98 char = e;code = 101 char = ;code = 32 char = e;code = 101 char = i;code = 105 char = t;code = 116 char = h;code = 104 char = e;code = 101 char = r;code = 114 char = ;code = 32 char = o;code = 111 char = f;code = 102 char = ;code = 32 char = a;code = 97 char = n;code = 110 char = c;code = 99 char = e;code = 101 char = s;code = 115 char = t;code = 116 char = r;code = 114 char = a;code = 97 char = l;code = 108 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = i;code = 105 char = g;code = 103 char = i;code = 105 char = n;code = 110 char = s;code = 115 char = ;code = 32 char = o;code = 111 char = r;code = 114 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = r;code = 114 char = i;code = 105 char = v;code = 118 char = e;code = 101 char = d;code = 100 char = ;code = 32 char = f;code = 102 char = r;code = 114 char = o;code = 111 char = m;code = 109 char = ;code = 32 char = d;code = 100 char = e;code = 101 char = ;code = 32 char = n;code = 110 char = o;code = 111 char = v;code = 118 char = o;code = 111 char = ;code = 32 char = e;code = 101 char = v;code = 118 char = e;code = 101 char = n;code = 110 char = t;code = 116 char = s;code = 115 char = .;code = 46 char = <;code = 60 char = b;code = 98 char = r;code = 114 char = /;code = 47 char = >;code = 62 result sql = Acute intermittent porphyria (AIP) is an inherited disorder in the haem biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. To date, more than 200 different mutations have been identified in the PBG deaminase gene (PBGD) in AIP patients from various countries and ethnic groups. While the majority of the PBGD gene mutations, including most of the mutations occurring at CpG dinucleotides, are family-specific, a few CpG mutations have been observed in a number of AIP patients of European origin. To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations. Among the three R173Q families, three distinct haplotypes were found to be cosegregated with the mutation. One Swiss and one German G111R family shared partially an intragenic and its extended microsatellite haplotype, whereas the Polish G111R family showed a unique haplotype. These results indicated that the recurrent CpG mutations that exist in the European AIP population can be either of ancestral origins or derived from de novo events.
Publication: J. Inherit. Metab. Dis. 2004 ;27(5)::625-31.
Publication Date: 2004
Study Author(s): Schneider-Yin, X;Hergersberg, M;Schuurmans, M M;Gregor, A;Minder, E I;
Institution: Zentrallabor, Stadtspital Triemli, Zürich, Switzerland.
Shortcut link to this study:
Acute intermittent porphyria (AIP) is an inherited disorder in the haem biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. To date, more than 200 different mutations have been identified in the PBG deaminase gene (PBGD) in AIP patients from various countries and ethnic groups. While the majority of the PBGD gene mutations, including most of the mutations occurring at CpG dinucleotides, are family-specific, a few CpG mutations have been observed in a number of AIP patients of European origin. To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations. Among the three R173Q families, three distinct haplotypes were found to be cosegregated with the mutation. One Swiss and one German G111R family shared partially an intragenic and its extended microsatellite haplotype, whereas the Polish G111R family showed a unique haplotype. These results indicated that the recurrent CpG mutations that exist in the European AIP population can be either of ancestral origins or derived from de novo events.
PMID: 15669678