宁夏人群MSX1基因CA重复序列多态性与非综合征型唇腭裂相关性的研究

Relationship between MSX1 CA repeat and non-syndromic cleft lip with or without palate in Ningxia population

目的探讨宁夏人群同源异型盒1(MSX1)基因CA重复序列(STR)与非综合征型唇腭裂的相关性。方法收集宁夏地区非综合征型唇腭裂三人核心家庭(患儿及其双亲)40例,采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法检测MSX1基因CA重复序列基因型,进行传递不平衡检验(TDT)和家系为基础的相关性分析(FBAT)。结果运用TDT发现,MSX1基因CA重复序列CA4等位基因在本研究人群非综合征型唇腭裂患儿中存在过传递(P=0.034)。FBAT分析表明MSX1基因CA重复序列与本研究人群非综合征型唇腭裂具有相关性(P<0.05)。结论MSX1基因CA重复序列与宁夏人群非综合征型唇腭裂存在相关性。

Objective To investigate the relationship between muscle segment homeoboxl （MSX1） gene CA repeat （STR） polymorphisrn and non - syndromic cleft lip with or without palate （NSCL/P） in Ningxia population. Methods Forty NSCL/P nuclear families were collected including the patients and their parents. Genomic DNA of the samples was extracted and PCR - SSCP was used to identify the genotypes, then the genomie DNA was carded out transmission disequilibrium test （TDT） and family based association test （FBAT）. Results In TDT, the CA4 allele of MSX1 gene had a strong overtransmission in NSCL/P （ P = 0.000）. FBAT analysis also showed a significant association between MSX1 CA repeat and NSCIMP. Conclusion MSX1 gene CA repeat polymorphism was associated with NSCIMP in Ningxia population.