使用Xba I多态性进行甲型血友病产前诊断时可能出现的误诊。

Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A.

作者信息

Van de Water N S, May S J, Browett P J

机构信息

Department of Haematology, Auckland Hospital, New Zealand.

出版信息

Br J Haematol. 1994 Nov;88(3):613-4. doi: 10.1111/j.1365-2141.1994.tb05081.x.

DOI:10.1111/j.1365-2141.1994.tb05081.x

PMID:7819074

Abstract

A mother of two haemophilia A sons presented at 7 weeks pregnancy for a prenatal diagnosis. Southern blot analysis of haemophilia DNA at the factor VIII intron 22 Xba I restriction fragment length polymorphism (RFLP) site revealed an Xba I haplotype of A-B+C-. This haplotype has been alluded to but not reported before, and when a 1.6 kb Bst XI fragment of p482.6 is used as a probe the resulting band pattern is similar to that of females heterozygous at site A.

摘要

一位育有两名甲型血友病儿子的母亲在怀孕7周时前来进行产前诊断。对因子VIII内含子22 Xba I限制性片段长度多态性（RFLP）位点的血友病DNA进行Southern印迹分析，结果显示Xba I单倍型为A - B + C -。这种单倍型此前曾被提及但未报道过，当使用p482.6的1.6 kb Bst XI片段作为探针时，所得的条带模式与A位点杂合女性的条带模式相似。