Open AccessA retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis
Author(s) -
Xu Ying,
Li Yu,
Song Tingting,
Guo Fenfen,
Zheng Jiao,
Xu Hui,
Yan Feng,
Cheng Lu,
Li Chunyan,
Chen Biliang,
Zhang Jianfang
Publication year - 2018
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22445
Subject(s) - sanger sequencing , denaturing high performance liquid chromatography , duchenne muscular dystrophy , missense mutation , frameshift mutation , prenatal diagnosis , nonsense mutation , mutation , medicine , genetics , splice site mutation , family history , pregnancy , biology , gene , fetus , rna splicing , rna
Background To offer 4‐year clinical prenatal diagnosis experience of Duchenne muscular dystrophy ( DMD ). Methods Denaturing high‐performance liquid chromatography ( DHPLC ) and Sanger sequencing were used for molecular diagnosis of 237 DMD families. Results In the study, deletions, duplications, complex rearrangement and small mutations accounted for 47.3%, 8.4%, 1.7% and 42.6% of 237 families, respectively. Sixty‐six different deletion patterns were identified in 112 families. Fourteen different duplication patterns were identified in 20 families and 4 complex rearrangements were identified. About 87.1% different small mutation patterns were identified, including 37.6% different nonsense mutation patterns, 24.8% different frameshift mutation patterns, 7.9% different missense mutation patterns, and 16.8% different splice site mutation patterns. There was no significant difference in the age of onset and mutation patterns ( P > .05). The follow‐up examinations revealed that the pregnancies of 14 cases were interrupted. Two cases were preterm births, 151 cases were delivered at term, 63 cases continued to pregnancy, and 7 cases were lost to follow‐up. Conclusion DHPLC and Sanger sequencing technique are efficient, sensitive, and specific in screening for DMD gene mutations. And pre‐pregnancy DMD gene examination is an important step to assess mutation type of family with suspected DMD and guides exactly prenatal diagnosis in high‐risk families.