Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly.
- VernacularTitle:一常染色体显性May-Hegglin异常家系致病基因的突变分析
- Author:
Yapei FENG
1
;
Xiaofan GUO
;
Lin LI
;
Jiangxia LI
;
Zhonglu LIU
;
Xiaoyan ZHU
;
Qiji LIU
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; China; Exons; Female; Genes, Dominant; Hearing Loss, Sensorineural; Humans; Male; Molecular Motor Proteins; genetics; Mutation; Myosin Heavy Chains; genetics; Pedigree; Phenotype; Thrombocytopenia; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2013;30(3):305-308
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly.
METHODSClinical and pathological features of all family members were analyzed. Blood samples were collected from the proband and other family members, and genomic DNA was extracted. Potential mutations of MYH9 gene exons 10, 25, 26, 30, 38 and 40 were screened with PCR and direct sequencing. After a mutation was identified in the proband, other affected members as well as healthy members from this family were analyzed with a pair of primers to amplify the mutant site. The PCR products were digested with Taq I enzyme and analyzed with agarose gel electrophoresis.
RESULTSAll affected members had bleeding tendency and typical features including giant platelets, thrombocytopenia and characteristic Dohle body-like leukocyte inclusions. A heterozygous missense mutation c.5521G>A (p.Glu1841Lys) in exon 38 of the MYH9 gene was identified in all affected members from this family.
CONCLUSIONThe variant, c.5521G>A (p.Glu1841Lys) of MYH9, has co-segregated with the phenotype in the family. The mutant site is a hot spot in Chinese population.
