Analysis of cardiac troponin C gene TNNC1 c. G175C mutation in a Chinese pedigree with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype

Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao

一例罕见的Chinese Gγ（Aγδβ）°-thal纯合子的基因检测及临床表型分析

目的对1例可疑的地中海贫血患者进行鉴定，明确其基因型。方法应用检测已知地中海贫血突变的常规方法[反向点杂交与跨越断裂点PCR（Gap-PCR）]结合多重连接探针扩增检测患者的基因型，设计相应的引物，建立检测该突变的Gap-PCR方法。结果 患者的基因型被确定为-Chinese Gγ（Aγδβ）°/-Chinese Gγ（Aγδβ）°，其血液学特征和临床症状偏向于中重度贫血。所建立的Gap-PCR体系能够对Chinese Gγ（Aγδβ）°-thai进行准确的检测。结论Chinese Gγ（Aγδβ）°-thal在中国南方地区具有一定的发生率，应引起重视。应用Gap-PCR体系能够对该突变进行简单快捷的检测，适于推广。