Analysis of COL1A1 gene mutation in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta.
- Author:
Yanmei HUANG
1
;
Liwei GUO
;
Donghao WANG
;
Mingjuan YANG
;
Baosheng YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Amino Acid Sequence; Asian Continental Ancestry Group; genetics; Base Sequence; China; Collagen Type I; genetics; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; ethnology; genetics; Heterozygote; Humans; Male; Mutation; Osteogenesis Imperfecta; ethnology; genetics; Pedigree; Penetrance; Sequence Homology, Amino Acid; Young Adult
- From: Chinese Journal of Medical Genetics 2016;33(5):653-656
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta (OI).
METHODSPeripheral blood samples were collected from all 11 members of the family and 50 healthy adults for the extraction of genomic DNA. All exons and introns of the COL1A1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. Mutations found in the proband were analyzed through comparison with other members of the family, 50 healthy individuals and sequence from the GenBank.
RESULTSFifteen sequence variants were discovered, which included 1 missense mutation, 1 synonymous mutation and 13 intronic mutations. All of the 4 patients from the family were detected as having carried a novel heterozygous missense mutation (c.4193T>G, p.I1398S) in exon 50 of the COL1A1 gene. The father of the proband has carried the same mutation but had a normal phenotype. The same mutation was not found in other healthy members of the family.
CONCLUSIONThe OI type of this family may have been autosomal dominant with incomplete penetrance or autosomal recessive associated with COL1A1 gene mutations.
