摘要
目的研究一个X-连锁迟发性脊椎骨骺发育不良（spondyloepiphyseal dysplasia tarda，SEDT）家系发病的分子遗传学机制，为其家系成员建立遗传咨询和产前诊断的方法。方法应用PCR扩增及DNA测序分析方法，对1家系包括3例SEDT患者在内的7名家系成员SEDL基因的全部编码外显子及其邻近序列进行突变分析。结果在3例SEDT患者及2例携带者中发现了致病突变，并经DNA序列分析证实，SEDL基因第5外显子发生移码突变C．267_271delAAGAC。结论SEDL第5外显子的C．267_271delAAGAC突变为该家系的致病原因。
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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第5期604-607,共4页
Chinese Journal of Medical Genetics
