常染色体显性遗传

An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.

报道了一个遗传性小眼症家系的调查结果，该家系属于先天性睑裂狭小综合症，为常染色体显性遗传。

Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.

目的：研究华东地区汉族人常染色体显性遗传性多囊肾病（adpkd）基因型与临床表现型的关系。

Conclusion: the essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.

结论原发性高血压是由DNA损伤引起的人类表型缺陷，该病症符合常染色体显性遗传，具延迟外显性。

Objective To study the expression of extracellular matrix and polycystin-1 in ADPKD and their relation to cyst formation.

目的研究常染色体显性遗传型多囊肾病肾组织中细胞外基质和多囊蛋白-1的表达及与囊肿发生的关系。

Conclusions: EBS-WC is an autosomal dominant genetic disorder with no special treatment. The diagnosis of this condition can be confirmed by the electron microscopy.

结论：EBS - WC主要是常染色体显性遗传性疾病，目前尚无有效的治疗方法，确诊需依靠电镜检查。