De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis.
作者信息
Delpech M, Deburgrave N, Baudis M, Maissonneuve P, Bardin J M, Sultan Y, Kaplan J C
出版信息
Hum Genet. 1986 Nov;74(3):316-7. doi: 10.1007/BF00282556.
PMID:2877941
Abstract
In a family with a single case of hemophilia A genetic counselling was requested by the pregnant aunt of the propositus. The haplotypes generated by two extra-genic RFLPs, at DXS52 (St14/Taq1) and DXS15 (DX13/BglII), and one intragenic RFLP in F8C (647/BclI) indicated that: she was not a carrier; the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.
摘要
Zotero 插件