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目的:遗传型RB是一种单基因疾病,由定位在13q14的Rb基因突变所致。大多数遗传性RB表现出典型的孟德尔常染色体显性遗传特征。作者分析三个遗传性RB家系RB外显不全及表型传递规律变异的原因。方法:RFLPs和VNTRs作单体型分析,SSCP及直接DNA序列分析检测Rb基因点突变。结果:Rb基因突变嵌合体是造成某些Rb基因突变携带者不发病以及家庭成员中RB表型遗传不符合孟德尔规则的重要原因之一。结论:直接检测致病性的Rb基因突变才能准确判断携带者,估计患病风险。
OBJECTIVE: Genetic RB is a single gene disease caused by a mutation in the Rb gene located at 13q14. Most hereditary RBs display typical Mendelian autosomal dominant genetic features. The authors analyzed the causes of abnormalities in the genealogical distribution and phenotypic variation of RB in the three hereditary RB pedigrees. Methods: RFLPs and VNTRs were used for haplotype analysis. SSCP and direct DNA sequence analysis were used to detect point mutations in Rb gene. Results: The mutation of chimeric Rb gene was one of the important reasons that carriers of some Rb gene mutations did not occur and the inheritance of RB phenotype in family members did not fit Mendelian rule. Conclusion: The direct detection of pathogenic mutations in the Rb gene can accurately determine the carriers, the estimated risk of illness.