CAJ | 학술논문

目的：对双亲缺失的姐妹进行同胞鉴定。方法采用chelex-100法提取血液DNA ，通过检测常染色体短串联重复序列（short tandem repeat， STR）位点、X 染色体STR位点和线粒体单核苷酸多态性（single nucleotide polymorphism， SNP）进行基因分型，分型结果通过判别函数、ITO 法、X 染色体STR位点和线粒体SNP分析的方法进行同胞关系判定。结果39个常染色体等位基因位点的共享基因数为27个，用辨别函数判别归于无关个体；用ITO 法计算亲缘关系系数（FSI）为6.95003×10-44，判别为无关个体；12个X 染色体 STR 等位基因位点中，有3个X 染色体STR位点不匹配，排除姐妹俩来自同一父亲；线粒体SNP的检测显有3个基因座不同，两人来源于不同母系。结论通过联合利用常染色体STR、X染色体STR和线粒体SNP检测技术进行确认两人不是同胞姐妹关系。
목적：대쌍친결실적저매진행동포감정。방법채용chelex-100법제취혈액DNA ，통과검측상염색체단천련중복서렬（short tandem repeat， STR）위점、X 염색체STR위점화선립체단핵감산다태성（single nucleotide polymorphism， SNP）진행기인분형，분형결과통과판별함수、ITO 법、X 염색체STR위점화선립체SNP분석적방법진행동포관계판정。결과39개상염색체등위기인위점적공향기인수위27개，용변별함수판별귀우무관개체；용ITO 법계산친연관계계수（FSI）위6.95003×10-44，판별위무관개체；12개X 염색체 STR 등위기인위점중，유3개X 염색체STR위점불필배，배제저매량래자동일부친；선립체SNP적검측현유3개기인좌불동，량인래원우불동모계。결론통과연합이용상염색체STR、X염색체STR화선립체SNP검측기술진행학인량인불시동포저매관계。
Objective To carry out a sibling identification on the orphaned sisters. Methods Genomic DNA of two ladies were extracted by using chelex-100 method. Genotyping was performed by detecting STRs loci on autosome, STR loci on X-chromosome and mitochondrial-SNP loci. Then the data were analyzed by discriminant function analysis , ITO method , X-STR analysis and mitochondrial-SNP analysis to identify the sibling relation of the orphaned sisters. Results There were 27 shared loci among 39 STRs loci on the autosome , which were considered as unrelated individuals based on discriminant function analysis and ITO method. 3 inconsistent loci were detected among 12 X-STR loci , which implied that the two sisters didn’t have a biological father. 3 inconsistent loci were detected among 49 mitochondrial-SNP loci, which suggested that they didn’t have a biological mother. Conclusion The joint use of the technology of autosome STR , X-chromosome STR and mitochondrial-SNP determined that two ladies were not sibling relationship.