Mucopolysaccharidosis type Ⅱ: a progress on molecular genetics / 国际儿科学杂志

ABSTRACT

Mucopolysaccharidosis type Ⅱ is a rare single gene inherited disorder. In the earlier 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 molecular 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 level, which will benefit the investigation of the genotype-phenotype correlations.