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目的探讨华人遗传性混合息肉病综合征(HMPS)患者基因单倍型定位与公认Ashkenazi家系(SM96)是否一致。方法从31个家系成员外周血标本中提取基因组DNA,多重PCR扩增4个微卫星标记D15S1010、D15S1007、ACTC和D15S118。采用单倍型和遗传连锁分析方法,验证人染色体15q13区域2.8cM范围内遗传标记是否与致病基因连锁。结果12号家系中该病的单倍型在一个患病个体无标记连锁,同时2号家系未发现该病的单倍型。ACTC标记两点及多点遗传连锁分析最大对数优势记分LODs分别为0.20(θ=0.3)和-5.0。结论单倍型及遗传连锁分析提示,Ashkenazi单倍型与华人HMPS无关,两者存在遗传背景的差异性。
Objective To investigate whether the gene haplotype localization in Chinese hereditary polyposis syndrome (HMPS) is consistent with the accepted Ashkenazi pedigree (SM96). Methods Genomic DNA was extracted from peripheral blood samples from 31 pedigrees. Four microsatellite markers D15S1010, D15S1007, ACTC and D15S118 were amplified by multiplex PCR. Haplotypes and genetic linkage analysis were used to verify whether genetic markers in the 2.8cM region of human chromosome 15q13 were linked to the causative genes. Results In haplogroup 12, the haplotype of the disease was unlabeled in a diseased individual, and haplotype was not found in pedigree 2. ACTC marker two-point and multi-point genetic linkage analysis of the largest logarithmic advantage score LODs were 0.20 (θ = 0.3) and -5.0. Conclusion Haplotype and genetic linkage analysis suggest that Ashkenazi haplotype has nothing to do with Chinese HMPS, there is a genetic background difference between the two.