Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta.
- VernacularTitle:一个Ⅰ型成骨不全家系COL1A1基因的剪切位点新突变及产前诊断
- Author:
Hui ZHANG
1
;
Dong WU
;
Qiaofang HOU
;
Zhiyou LIU
;
Litao QIN
;
Shixiu LIAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child, Preschool; Collagen Type I; genetics; DNA Mutational Analysis; Female; Fetal Diseases; diagnosis; genetics; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteogenesis Imperfecta; diagnosis; genetics; Pedigree; Point Mutation; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2014;31(6):730-732
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect mutation of COL1A1 gene in a Chinese family affected with type I osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week.
METHODSPolymerase chain reaction, DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls.
RESULTSNo mutation has been detected in the COL1A2 gene in all of the subjects. A heterozygous mutation c.104-1G>C was identified in the COL1A1 gene among all patients from this family. The same mutation was not found in other members from the family and the 100 healthy controls. The mutation was not found in the fetus, and was verified to be a new mutation according to the type I collagen mutation database.
CONCLUSIONThe c.104-1G>C mutation of the COL1A1 gene probably underlies the type I osteogenesis imperfecta in this family. Under the premise of a clear genetic diagnosis, prenatal diagnosis may be provided to reduce the risk for the disease.
