广东人群8q24 rs1530300单核苷酸多态性与非综合征性唇腭裂的相关性研究

doi:10.3969/j.issn.1004-616x.2014.02.011

Abstract

Abstract:

OBJECTIVE: To explore the association between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of 8q24 rs1530300 in Chinese Han population located in Guangdong province. METHODS：Blood samples from 168 NSCL/P patients and 127 unrelated healthy individuals of the Chinese Guangdong population were collected. DNA was extracted and high resolution melting (HRM) was used to identify single nucleotide polymorphism of rs 1530300 in all samples. Chi square test was used to analyze the genotype and allele distribution between case group，father group，mother group and control group. Transmission-disequilibrium test was also carried out. RESULTS：The method for genotyping 8q24 rs1530300 was set up. The genotypic distribution of rs1530300 in case and control group did not deviate from the Hardy-Weinberg equilibrium. There were no significant differences in the frequency distributions of both genotypes and alleles when case group，or father group ，or mother group was compared with control group at the rs1530300 (P>0.05). We found no evidence of allele transmission-disequilibrium at rs1530300 in cleft case-parent trios(P>0.05). CONCLUSION：In our study，the genetic polymorphism of 8q24 rs1530300 was not associated with the development of NSCL/P in Chinese Han population located in Guangdong province.

Key words: nonsyndromic cleft lip with or without cleft palate, single nucleotide polymorphism, 8q24 rs1530300, high resolution melting

MA Jing，XU Ming-yan，LIU Ting-ying，FU Yu-cai，DENG Xiao-ling. Association of a single nucleotide polymorphism in 8q24 rs1530300 and nonsyndromic cleft lip with or without cleft palate in Guangdong[J]. Carcinogenesis, Teratogenesis & Mutagenesis, doi: 10.3969/j.issn.1004-616x.2014.02.011.

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Association of a single nucleotide polymorphism in 8q24 rs1530300 and nonsyndromic cleft lip with or without cleft palate in Guangdong

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