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Table 3 X-inactivation status of members of other families affected with MD

From: Clinical expression of Menkes disease in females with normal karyotype

Family, mutation type

Unaffected carriers (n = 34).

Inactivation mutant X:normal X

Non-carriers (n = 28)

Activity of X1:X2

942, 1 bp dup exon 10

2 people: 93:7% (AM45F); 91:9% (AM44F)

1 person: 46:54% (AM93F)

91207, nonsense exon 18

3 people: 99-100:1-0% (28386B; 28384B; 28356B).

1 person: 83:17% (28388B)

 

1 person: 54:46% (36054B)

1 person: 73:27% (36052B)

  

2 people: 58:42% (28389B); 58:42% (36053B)

93210, 2 bp dup exon 21

2 people: 90:10% (12499B); 98:2% (12496B)

 

9129, splicing intron 9

1 person: 100:0% (92-5408T)

2. people: 68:32% (91-581T); 65:35% (91-420T)

 

1 person: 86:14% (91-578T)

 

93220, splicing intron 6

2 people: 100:0%(12809F); 100:0% (12810F)

1 person: 90:10% (12746F)

  

1 person: 60:40% (12745F)

94252, missense exon 10

2 people: 94:6% (29620B); 100:0% (29623B)

1 person: 80:20% (29619B)

 

1 person: 80:20% (29617B)

2 people: 51:49% (29621B); 56:44% (29624B)

95254, missense exon 10

2 people: 98:2% (48625B); 91:8% (48627B)

1 person: 61:39% (48626B)

 

1 person: 74:26% (46672B)

 

94267, missense exon 12

2 people: 75:25% (37443B); 84:16% (37435B)

1 person: 74:26% (37437B)

  

2 people: 51:49%(3744B2); 52:48% (37440B)

9328, missense exon 12

1 person: 100:0% (2429T)

1 person: 78:22% (2351T)

  

1 person: 52:48% (2350T)

91204, exon 3_4del

2 people: 99:1% (11559F; 11761F)

1 person: 91:9% (11864B)

  

1 person: 73:27% (11863B)

96249, exon 8_9del

2 people: 87:13% (65547B); 83:17% (63056B)

1 person: 73:27% (67297B)

 

1 person: 78:22% (65646B)

 

9727, exon 12_15 del

1 person: 81:19% (78773B)

1 person: 86:14% (29898F)

  

1 person: 73:27% (32531B)

  

1 person: 62:38% (32532B)

91262, exon 13_17del

3 people: 99-100:1-0% (AM261F, AM264F, 51646F)

 

9720, missense exon 20

1 person: 92:8% (67806F)

1 person: 53:47% (67884F)

 

2 people: 48:52% (67808F); 37:63% (67804F)

 

91269, exon 13_17del

1.person:100:0% (D91-538T)

2 people:100:0% (553T); 100:0% (10340T)

  

1 person: 60:40% (38179F)

  1. DNA extracted from B: blood sample; T: transformed lymphocytes; F: cultured fibroblasts.