TITLE

PCR-HRM Analysis for Gene Mutation Screening in a Child with Osteogenesis Imperfecta

AUTHOR(S)
BAI Xue; LI Keqiu; REN Xiuzhi; HE Xiaobo; WANG Yi; GUAN Shizhen; JING Yaqing; LI Guang
PUB. DATE
July 2014
SOURCE
Tianjin Medical Journal;2014, Vol. 42 Issue 7, p693
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Objective To investigate COL1A1 gene mutation by PCR-high resolution melting (PCR-HRM) and analyze the correlation between genotype and clinical phenotype in a child (proband) with osteogenesis imperfecta (OI). Methods The family history of OI pedigree along with the clinical data was collected. Blood samples from the proband and his family members, as well as 50 normal controls, were collected. The mutation of COL1A1 gene was screened using PCR-HRM and validated by the gene sequence. Results The detection of PCR-HRM showed the abnormal result of COL1A1 17 exon in proband with a lower melting temperature (Tm) value than that of normal controls by 0.4°C. There were significant differences in the standardization melting curve and the different melting curve between the proband and the normal controls. The sequencing result was c.1138G>A, which meant that cDNA of 1138 base G mutation into A. The mutations transformed the amino acid glycine into a serine at amino acid 380 (P. Gly 380 Ser), which resulted in missense mutations. The proband s father and grandmother had the same mutation of COL1A1 gene. The mutation was not found in the proband s mother and normal controls. There was no report for such mutation in Chinese population. Pedigree analysis showed the family genetic characteristics of autosomal dominant inheritance. The proband was clinically diagnosed as OI type IV with more severe clinical phenotype. Conclusion PCR-HRM analysis is a new effective method for genetic screening of OI. COL1A1 mutation of c.1138G>A is a newly discovered mutation in Chinese population. Gly replaced in α helical domain may lead to a more severe clinical phenotype.
ACCESSION #
98167558

 

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