Genetic counseling by analysis of intron 22 inversions of the factor VIII gene

被引：0
作者：
Yamazaki, E
Mohri, H
Harano, H
Kanamori, H
Inaba, H
Okubo, T
机构：
[1] Yokohama City Univ, Sch Med, Dept Internal Med 1, Kanazawa Ku, Yokohama, Kanagawa 236, Japan
[2] Tokyo Med Coll, Dept Clin Pathol, Tokyo 160, Japan
来源：
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS | 1998年 / 4卷 / 02期
关键词：
hemophilia A; factor VIII gene rearrangement; genetic counseling;
D O I：
10.1177/107602969800400206
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Ten patients with severe hemophilia A and 10 with moderate and mild hemophilia A were studied. Five of 10 unrelated patients with severe hemophilia A had the distal telomeric int22h sequence, none had the proximal sequence, and one had a unique variant factor VIII gene rearrangement. Carrier detection was done in these six families. All mothers and two daughters of the patients were to be carriers. Six of the 15 at-risk female relatives were heterozygous for the rearranged and normal allele and were carriers. These results indicate that the rearrangement assay is very useful for carrier detection in families with severe hemophilia A.
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页码：111 / 113
页数：3
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