黏多糖贮积症Ⅱ型分子遗传学研究进展

Mucopolysaccharidosiss type Ⅱ： a pregress on molecular genetics

黏多糖贮积症Ⅱ型是罕见的单基因遗传疾病。以往研究集中于对发现的散在突变作热点突变区域分析。近年来，随着更多新突变的发现，探讨基因突变如何影响剪切，使该疾病基因型与表型的联系成为该领域研究难点和热点。该文从分子遗传学角度，对该病的致病基因IDS的基本特点、基因突变、女性患者基因突变分析、基因型与表型关系研究及进展作概述。研究发现，在今后对该疾病的基因检测应考虑基因．假基因重组的可能性，尽可能从cDNA水平研究突变对剪切的影响，从而更有助于理解基因型与表型的关系。

Mucopolysaccharidosis type Ⅱ is a rare single gene inherited disorder, m me earner studies, more attention was paid to the molecular analysis of the hot spots of the mutations. With the detection of more and more novel mutations,more studies are trying to analyze the effect on splicing of different types of mutations and the genotype-phenotype correlations. This review will introduce the progress on molecuhr genetics,the gene mutation, analysis of the female patients and the genotype-phenotype correlations.With the study of these progress,it suggested that more attention should be paid to the possibility of gene-pseudogen recombinations, trying to study the effect on splicing from the cDNA levd, which will benefit the investigation of the genotype-phenotype correlations.