目的调查y染色体7个STR位点及单倍型的遗传多态性并分析其群体差别。
Objective To investigate the genetic polymorphism of7Y-STR loci and haplotypes and analyze their population difference.
对2个完整的三代家系和51个核心家系的系谱分析,发现瓣状甲的遗传特点与常染色体单基因显性性状一致。
Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
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