Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis

被引：22

作者：

Lee, SH ^{[1
]}

Kwak, IP ^{[1
]}

Cha, KE ^{[1
]}

Park, SE ^{[1
]}

Kim, NK ^{[1
]}

Cha, KY ^{[1
]}

机构：

[1] Pochon CHA Univ, Coll Med, Dept Obstet & Gynecol Pediat & Human Genet, Lab Infertil,Med Ctr,CHA Gen Hosp,Gangnam Ku, Seoul 135081, South Korea

来源：

MOLECULAR HUMAN REPRODUCTION | 1998年 / 4卷 / 04期

关键词：

Duchenne muscular dystrophy; non-deletion; linkage analysis; preimplantation diagnosis;

D O I：

10.1093/molehr/4.4.345

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The use of preimplantation diagnosis for sex determination and detection of exon deletion means that unaffected babies can be born to parents suffering from Duchenne muscular dystrophy (DMD). However, those who do not have exon deletion should also be considered for further investigation. A new method, known as linkage analysis, has been developed to diagnose the presence of non-deletion DMD in preimplantation embryos. Linkage analysis uses informative intragenic and flanking markers to track the chromosome bearing the mutated gene. The present study reports the analysis of two polymorphic sites, in blastomeres biopsied from embryos from a female carrier of DMD. A single male embryo was obtained who had inherited alternate maternal alleles to the woman's affected surviving son, and this embryo was transferred.

引用

页码：345 / 349

页数：5