A Pedigree Including Eight Cases Sarcoglycan Gene Sequence Analysis Of Limb-girdle Muscular Dystrophy

Objective: Limb-girdle muscular dystrophy (LGMD) is autosomal hereditary musculardystrophy，genetic patterns and clinical symptoms of which are highly heterogeneous.Its main clinical manifestations are progressive muscular weakness and atrophy ofshoulder girdle and pelvic girdle, and involvement of the bulbar muscles andrespiratory muscles is in the minority.LGMD is one type of progressive musculardystrophy (PMD).There are two types in LGMD：LGMD1expresses autosomaldominant(type1) and LGMD2expresses autosomal recessive(type2). LGMD2dividesinto A~J10subtypes, according to clinical symptom which also can be divided intomild type and severe type, severe type for the C~F, encoding γ-、 α-、 β-、δ-sarcoglycan.DNA sequencings with a diagnosis of limb-girdle muscular dystrophy(LGMD2)(severe type) pedigrees are performed to find mutation site in this study，guiding gene screening and rapid diagnosis and reducing the birth rate of childpatients.Methods: The object is from inbreeding pedigree of LGMD in Yushu City, JilinProvince and pedigree analysis is performed by building a genogram. According toclinical manifestations and genetic pattern,it is considered as LGMD2(severe type).genome-wide DNA is extracted,and then mutation detection and identification to α-,δ-sarcoglycan exon are performed by PCR.Results: The analysis of pedigree shows that it accords with autosomal recessiveinheritance.It is found by sequencing the exons of sarcoglycan that there are somemutations in exon3of δ-sarcoglycan，which are probably the pathogenic mutationsof LGMD.In conclusion，the type of LGMD is more likely to be LGMD2F.Conclusion：Establish the method for detection of sarcoglycan gene of LGMD2,andapply to early screening and rapid diagnosis for LGMD, thus provide reliable basis forprenatal diagnosis, and then make the foundation for further research on gene therapyin future. Consanguineous marriage is often an important factor in autosomal recessive genetic disease, and inbreeding avoided can prevent this kind of disease.