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到目前为止,关于21三体不分离的原因应用过两种研究方法:细胞遗传学异源多态性和Southern印迹分析DNA多态性。最近认为人类基因组的短顺序重复是DNA多态性充分存在的一类,且可用PCR扩增,如VNDR(重复数变化的二核苷酸重复)和AluVpAC腺嘌呤数变化的Alu顺序Poly(A)区。本文报道四种这种标记物用于87例Down综合征的额外21号染色体双亲起源的研究。作者所分析的多态性是HMG14—GT_1
To date, two approaches have been used for the reason that trisomy 21 does not separate: cytogenetic allogeneic and Southern blot analysis of DNA polymorphisms. The short sequence repeats of the human genome are recently thought to be a well-characterized category of DNA polymorphisms and can be amplified by PCR such as the VNDR (dinucleotide repeat with varying number of repeats) and the Alu sequence with a AluVpAC adenine number Poly (A )Area. We report the use of four of these markers for the extra-chromosomal amphipathic origin of 87 Down syndromes. The polymorphism analyzed by the authors is HMG14-GT_1