Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type.
- VernacularTitle:11例中国人粘多糖贮积症Ⅰ型轻型患者的基因突变检测
- Author:
Xin-ning WANG
1
;
Hui-ping SHI
;
Wei-min ZHANG
;
Zheng-qing QIU
;
Yan MENG
;
Feng-xia YAO
;
Min WEI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Child; Child, Preschool; China; DNA Mutational Analysis; methods; Female; Humans; Iduronidase; deficiency; genetics; Male; Molecular Sequence Data; Mucopolysaccharidosis I; diagnosis; enzymology; genetics; Mutation; Polymerase Chain Reaction; methods; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; methods; Young Adult
- From: Chinese Journal of Medical Genetics 2011;28(2):147-151
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEMucopolysaccharidosis type I (MPS I) is an autosomal recessive disease resulting from the deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). The present study was conducted to identify IDUA gene mutations in attenuated (MPS I H/S and MPS I S) patients with MPS I in northern China.
METHODSFourteen exons with adjacent intronic sequences of the IDUA gene in 11 MPS I patients were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced directly and origin analysis was conducted.
RESULTSSeven mutations were detected in the 11 MPS I patients, i.e., c.236 C to T (p. A79V), c.266 G to A (p.R89Q), c.265 C to T (p.R89W), c.532G to A (p.E178K), c.589G to A (p.G197S), c.1037T to G (p.L346R), and c.1877 G to A (p.W626X). All of them were known mutations. Six patients were homozygotes and 1 was heterozygote with nonsense mutation. In addition, 9 reported single nucleotide polymorphism (SNP) were detected, i.e., p.A8, p.A20, p.H33Q, p.R105Q, p.A314, p. A361T, p.T388, p.T410 and p.V454I.
CONCLUSIONThe mutation spectrum of the IDUA gene in attenuated MPS I Chinese patients may be different from that in patients from other countries.
