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问:我想咨询一下家族性肥厚型心肌病遗传概率有多大?答:家族性肥厚型心肌病(CMH)多呈常染色体显性遗传,外显不完全,但外显率高。CMH受控于多个基因座位,临床上分CMH1-CMH12等亚型,目前除CMH5外,相应的致病基因均已阐明,此外,还发现其他一些基因突变如MYLK2,CAV3,MYH6也导致CMH的表型。此外,某些编码线粒体tRNA基因的突变,如MTTG和MTTI基因,也可导
Q: I would like to ask about the genetic probability of familial hypertrophic cardiomyopathy? A: Familial hypertrophic cardiomyopathy (CMH) mostly autosomal dominant, incomplete appearance, but high penetrance. CMH is controlled by multiple loci and is clinically subtype of CMH1-CMH12. At present, except for CMH5, the corresponding pathogenic genes have been elucidated. In addition, some other gene mutations such as MYLK2, CAV3 and MYH6 have also been found to cause CMH Phenotype. In addition, mutations in some of the mitochondrial tRNA genes, such as the MTTG and MTTI genes, may also guide