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- W2380833496 abstract "Objective This study aimed to explore the genotype-phenetype correlation for one chinese family with cleidocranial dysplasia(CCD).Methods Genomic DNA was extracted from peripheral blood sample of each patient and healthy family member.The all 7 coding exons of RUNX2/CBFA1 and their flanking intronic sequences were amplified by polymerase chain reaction(PCR),and direct bilateral sequencing of the PCR products was used to identify the possible mutations.The mutation was further confirmed by restriction analysis.Results Bilateral sequencing of PCR amplified fragments in proband and his father revealed a heterozygous T-to-A transition mutation at nucleotide 346 in exon 1 of RUNX2/CBFA1,which gave rise to amino acid substitutions of tryptophane(Trp,W) for arginine(Arg,R) at codon 116(W116R).It was a missense mutation.Bilateral sequencing in proband's father also revealed a novel G/A heterozygous polymorphism(G198A) at nucleotide 198 in exon 1,and the codon 66 was changed from GCG to GCA,both them encoding alanine(Ala,A).It was synonymous mutation.This mutation did not appeared in the proband and healthy family members.The heterozygous T-to-A transition mutation at nucleotide 346 would removed the restriction site,so for the proband and his father in the first family,the nicking results of exon 1 would not only produce the two fragments,but also more of a non-cutting 513bp fragment,which was used to confirm the mutation.It was absent in healthy members.Conclusion The RUNX2/CBFA1 gene was responsible for the chinese families with CCD,and the 346T→A mutation was the molecular basis of the Chinese family with CCD." @default.
- W2380833496 created "2016-06-24" @default.
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- W2380833496 date "2010-01-01" @default.
- W2380833496 modified "2023-09-28" @default.
- W2380833496 title "Study of Genotype-phenetype Correlation for One Chinese Family with Cleidocranial Dysplasia" @default.
- W2380833496 hasPublicationYear "2010" @default.
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