强直性肌营养不良一家系遗传学分析

Genetic analysis of myotonic dystrophy

目的分析强直性肌营养不良一家系遗传学特征对该病症前高风险成员进行再发风险预测,并为该病的基因诊断和遗传咨询提供科学依据。方法全面的家系调查、深入的系谱分析和主动的遗传优生咨询。结果以先证者为线索深入调查此家系4代人39人,家系中强直性肌营养不良患者7例,4男3女;高风险者7名,需进一步进行基因诊断。结论此病为常染色体显性遗传病;体现了延迟显性、遗传印记等遗传学特征;对家系高风险者进行婚育指导和症前、孕前、产前诊断对避免患儿的出生具有重要意义。

Objective：To analyze the clinical data of myotonic dystrophy and predicting the recurrence risk before symptomatic recurrence for high-risk members,provide scientific basis for genetic disease diagnosis and counseling. Methods：Comprehensive family survey,in-depth genetic pedigree analysis and proactive eugenic counseling were conducted. Results：Taking the proband as a clue to look into the 4 generations of a family with 39 members,7 of them（4 males and 3 females）had myotonic dystrophy;7 high risk members,for further genetic diagnosis. Conclusion：The disease is autosomal dominant inheritance;Show delayed dominance,genetic imprinting characteristics;IT′s providing guidance on marriage and prepregnancy and prenatal diagnosis for high risk family to avoid the birth of disease children.