Risk analysis of recurrence of women with DMD birth history in families with new mutations in DMD gene
10.3760/cma.j.cn114452-20210118-00041
- VernacularTitle:DMD基因新发突变家系生育史女性再发风险分析
- Author:
Tao LI
1
;
Hongyan LIU
;
Hai XIAO
;
Qiannan GUO
;
Xiaoyu WANG
;
Jie ZOU
;
Poshi XU
Author Information
1. 河南省人民医院医学检验科 华中阜外医院医学检验科 郑州大学华中阜外医院医学检验科，郑州451464
- Keywords:
Muscular Dystrophy, Duchenne;
Gene;
Mutation;
Germ-line mutation;
Prenatal diagnosis;
Genetic counseling
- From:
Chinese Journal of Laboratory Medicine
2021;44(6):509-515
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize and analyze the risk of pregnancy recurrence of women with Duchenne muscular dystrophy (DMD) birth history in families with new DMD gene mutations, clarify the laws of DMD gene mutations and discuss the mode of genetic counseling in such families.Methods:Collected DMD families from January 2013 to December 2017 in Henan Provincial People′s Hospital. Firstly, the 79 exons of DMD gene were analyzed by multiplex ligation-dependent probe amplification (MLPA) in DMD patients and their mothers. The families that DMD patients with DMD gene mutations but no mutations in their mothers were selected for this study, and then MLPA combined with STR-gene linkage analysis were used to perform prenatal diagnosis for females in these DMD gene new mutation families.Results:A total of 64 families with new DMD gene mutations were included in this study. All mutations were DMD gene exon deletion mutations. A total of 65 fetuses were conducted prenatal diagnosis, included 26 SRY negative, 39 SRY positive; 63 fetuses′ DMD gene normal and 2 fetues′ DMD gene with exon deletion mutations. The results of postpartum follow-up and prenatal diagnosis were consistent.Conclusions:Exon mutations in newly mutated DMD families were mainly manifested as exon deletion, mainly presented in the 45-55 exon region. For families with new DMD mutations, even if there is no DMD gene mutation in women which had reproductive history of DMD, prenatal diagnosis for DMD during pregnancy was still recommended.
