Table 3.

Patients genotypes for AGXT mutations, minor (m) and major (M) haplotypes, and AGXT-linked markers

Patient AGXT Mutations (exons) Haplotype D2S2285 D2S125 D2S140
ND, not determined; M*, major haplotype with an unusual combination of G1142 polymorphism with C154T and without the insertion of 74bp in the first intron; X°, undetected AGXT mutation.
1 GAG408ins(2) /T576A(4) Mm ND 98/100 154/154
2 G244T(1) /C252T(1) MM 250/252 90/92 150/154
3 T444C(2) /G1098del(10) Mm 252/252 90/94 150/154
4 G1098del(10) /G1098del(10) MM 252/258 92/100 154/154
5 G588A(4) /G588A(4) MM ND ND ND
6 G630A(4) /G630A(4) mm 250/252 90/92 148/148
7 C155del(1) /C155del(1) MM 252/256 86/86 154/154
8 G630A(4) /G630A(4) mm 252/252 92/92 148/148
9 G588A(4) /G588A(4) MM 252/252 ND 156/156
10 G468A(2) /C156ins(1) MM* 250/254 92/94 154/154
11 G630A(4) /G640A(4) Mm 252/258 88/90 150/150
12 G630A(4) /G630A(4) mm 252/252 90/92 148/148
13 G243A(1) /G243A(1) MM 258/258 96/96 150/150
14 G630A(4) /G630A(4) mm 252/252 ND 148/148
15 C156ins(1) /C156ins(1) MM 250/252 ND ND
16 C156ins(1) /T444C(2) Mm 252/258 90/94 150/154
17 G1098del(10) /G1098del(10) MM 250/250 88/88 ND
18 T444C(2) /T444C(2) mm 252/252 90/90 ND
19 G630A(4) /G630A(4) mm ND 92/92 148/148
20 G468A(2) /X° Mm 252/258 ND 156/158
21 C156ins(1) /C156ins(1) MM 252/252 96/96 154/154
22 C252T(1) /X Mm 252/256 88/94 150/150
23 T444C(2) /G588A(4) Mm 250/252 94/100 148/158