Analysis of X‑chromosome short tandem repeats(STRs)is very helpful in deficiency paternity testing.Here,we reported a case of kinship analysis that showed a potentially erroneous inclusion of paternal sisters between ...Analysis of X‑chromosome short tandem repeats(STRs)is very helpful in deficiency paternity testing.Here,we reported a case of kinship analysis that showed a potentially erroneous inclusion of paternal sisters between two women.The two women shared alleles at 18 X‑chromosomal STR loci spanned from 14.76cM(DXS6807)to 184.19cM(DXS7423).When their relatives were not available for testing,biostatistical analysis for the 18 X‑chromosomal STR loci and 24 autosomal STR loci revealed the most possible relationship between the two women was paternal sisters.However,when the father of one woman was available,the other father‑daughter possibility was excluded.In the end,the likelihood ratio of STR marker and mitochondrial DNA(mtDNA)sequences confirmed the two women were maternal sisters.This case emphasizes a cautionary interpretation of X chromosomal marker in deficiency paternity cases with female offspring.Even though large parts of the X‑chromosome haplotypes shared by two females,additional relatives and extended DNA typing(such as mtDNA)may be needed further to ascertain whether they are paternal or maternal sisters.展开更多
基金This study was supported by the grant from the National Natural Science Foundation of China(Grant No.81373245)cultivation of Medical Young Teachers of College basic research of Sun Yat‑sen University(14ykpy02).The authors are grateful to the voluntary donors for their cases.
文摘Analysis of X‑chromosome short tandem repeats(STRs)is very helpful in deficiency paternity testing.Here,we reported a case of kinship analysis that showed a potentially erroneous inclusion of paternal sisters between two women.The two women shared alleles at 18 X‑chromosomal STR loci spanned from 14.76cM(DXS6807)to 184.19cM(DXS7423).When their relatives were not available for testing,biostatistical analysis for the 18 X‑chromosomal STR loci and 24 autosomal STR loci revealed the most possible relationship between the two women was paternal sisters.However,when the father of one woman was available,the other father‑daughter possibility was excluded.In the end,the likelihood ratio of STR marker and mitochondrial DNA(mtDNA)sequences confirmed the two women were maternal sisters.This case emphasizes a cautionary interpretation of X chromosomal marker in deficiency paternity cases with female offspring.Even though large parts of the X‑chromosome haplotypes shared by two females,additional relatives and extended DNA typing(such as mtDNA)may be needed further to ascertain whether they are paternal or maternal sisters.
