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str mutation and tri-allelic phenomena in one paternity testing case

STR mutation and tri-allelic phenomena in one paternity test...

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第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)

作者：王琳马旭 Genetic Center of National Research Institute for Family Planning The Graduate School of Pecking Union Medical School Beijing

Objective To report a case of paternity identification,which result cover str mutation and tri-allelic special genetic *** & Results 24 str were genotyped by PCR-str *** the 15 str,which are D3S1358,TH01, D21S11,D18S51,D5S818,D13S317,D7S820,D16S539,CSF1PO,VWA,D8S1179,TPOX,FGA,Penta E and Penta D,the obligate paternal alleles in the child all have corresponding alleles in the alleged father except for *** D8S1179genotype of alleged father,alleged mother and the child are 10/14,12,12/*** we scan the other 9 str loci,which are D18S1364, D12S391,D13S325,D6S1043,D2S1772,D11S2368,D22-GATA,D8S1132 and *** the obligate paternal alleles in the child have corresponding alleles in the alleged *** the locus D18S1364,we found the alleged father and the child are all tri-al-lelic. It seemed that the alleged father had transport his duo-allelic 14/18 to the *** also perform single detection of D18S1364, same result have been *** three band of the locus are uneven,we call it type 1 *** the genotype result and calculate the combined paternity index(CPI).The CPI are far more above *** we can say the tested Man can not be excluded as the biological father of the child in *** dispute phenomena in D8S1179 can be thought as str *** obligate paternal allele 15 may be come from her father’s *** & Conclusions The tri-allelic is a common result when person has an extra chromosome or small chromosome *** mutation is a common genetic phenomena,the mutation rate are 1‰on average. This is our first time find str mutation and tri-allelic in one *** we searched in the Medline,There is no related report.

关键词： str mutation tri-allelic paternity testing

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