Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta.
- Author:
Yinsen SONG
1
;
Xiangdong JIN
;
Jinghui KONG
;
Ding ZHAO
;
Zhenxin GUO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; Collagen Type I; genetics; Female; Humans; Male; Molecular Sequence Data; Osteogenesis Imperfecta; genetics; Pedigree; Point Mutation; RNA Splicing; Young Adult
- From: Chinese Journal of Medical Genetics 2014;31(4):472-475
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.
METHODSGenomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.
RESULTSA c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.
CONCLUSIONA novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.
