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

【作者】 王琳； 马旭；

【Author】 WANG Lin~(1,2,3),WANG Yi~(1,2),Ma Xu~(1,2,3) 1.Genetic Cen- ter of National Research Institute for Family Planning,Being,100081;2.The Graduate School of Pecking Union Medical School,Beijing, 100053;3.Beijing Institute of forensic science for sibling relationship,Beijing,100081

【机构】 Genetic Center of National Research Institute for Family Planning； The Graduate School of Pecking Union Medical School,Beijing； Beijing Institute of forensic science for sibling relationship；

【摘要】 <正>Objective To report a case of paternity identification,which result cover STR mutation and tri-allelic special genetic phenomena.Methods & Results 24 STR were genotyped by PCR-STR technique.Among 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 D8S1179.The D8S1179genotype of alleged father,alleged mother and the child are 10/14,12,12/15.Then we scan the other 9 STR loci,which are D18S1364, D12S391,D13S325,D6S1043,D2S1772,D11S2368,D22-GATA,D8S1132 and D7S3048.All the obligate paternal alleles in the child have corresponding alleles in the alleged father.At 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 child.We also perform single detection of D18S1364, same result have been acquired.The three band of the locus are uneven,we call it type 1 tri-allelic.Record the genotype result and calculate the combined paternity index(CPI).The CPI are far more above 10000.So we can say the tested Man can not be excluded as the biological father of the child in question.The dispute phenomena in D8S1179 can be thought as STR mutation.The obligate paternal allele 15 may be come from her father’s 14.Discussion & Conclusions The tri-allelic is a common result when person has an extra chromosome or small chromosome duplication.STR 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 case.After we searched in the Medline,There is no related report.更多还原

【Abstract】 Objective To report a case of paternity identification,which result cover STR mutation and tri-allelic special genetic phenomena.Methods & Results 24 STR were genotyped by PCR-STR technique.Among 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 D8S1179.The D8S1179genotype of alleged father,alleged mother and the child are 10/14,12,12/15.Then we scan the other 9 STR loci,which are D18S1364, D12S391,D13S325,D6S1043,D2S1772,D11S2368,D22-GATA,D8S1132 and D7S3048.All the obligate paternal alleles in the child have corresponding alleles in the alleged father.At 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 child.We also perform single detection of D18S1364, same result have been acquired.The three band of the locus are uneven,we call it type 1 tri-allelic.Record the genotype result and calculate the combined paternity index(CPI).The CPI are far more above 10000.So we can say the tested Man can not be excluded as the biological father of the child in question.The dispute phenomena in D8S1179 can be thought as STR mutation.The obligate paternal allele 15 may be come from her father’s 14.Discussion & Conclusions The tri-allelic is a common result when person has an extra chromosome or small chromosome duplication.STR 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 case.After we searched in the Medline,There is no related report.更多还原