Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2014
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Li Juan, Chai Xiaojing, Lu Li, Zhu Jiang, Du Xiaoyun, Zhao Li
Аннотация
OBJECTIVE: To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).
METHODS: For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.
RESULTS: In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.
CONCLUSION: c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.
METHODS: For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.
RESULTS: In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.
CONCLUSION: c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.