中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
1期
28-33
,共6页
李瓅%王黎%封青川%朱运良%程晓丽%孔祥东%黄艳梅%王文菲%曾昭书
李瓅%王黎%封青川%硃運良%程曉麗%孔祥東%黃豔梅%王文菲%曾昭書
리력%왕려%봉청천%주운량%정효려%공상동%황염매%왕문비%증소서
亲权鉴定%短串联重复序列%单核苷酸多态性%国际人类基因组单体型图计划%累积亲权指数
親權鑒定%短串聯重複序列%單覈苷痠多態性%國際人類基因組單體型圖計劃%纍積親權指數
친권감정%단천련중복서렬%단핵감산다태성%국제인류기인조단체형도계화%루적친권지수
Parentage testing%Short tandem repeats%Single nucleotide polymorphisms%Human haplotype mapping%Cumulative paternity index
目的 探索用常染色体单核苷酸多态性(single nucleotide polymorphisms,SNPs)进行亲权鉴定的可行性.方法 下载HapMap(r27)的SNPs分型结果,用自行编写的计算机程序提取基因频率在世界11个人群中一致分布于0.30～0.70区间的SNPs,进而选取互不连锁的96个SNPs整合于IlluminaGoldengate微珠芯片中,对3个父-子-母三联体亲权鉴定案例(共9份样品)进行SNPs分型,依分型结果计算出累积亲权指数(cumulative paternity index,CPI)等参数,并与上述案例的短串联重复序列(short tandem repeats,STRs)分型结果进行对比.结果 案例1的被控父有9个SNPs或7个STRs不符合孟德尔遗传规律；案例2的被控母有13个SNPs或7个STRs不符合孟德尔遗传规律；案例3有1个SNP或0个STR不符合孟德尔遗传规律.以96个SNPs对案例3进行亲权鉴定,其CPI=1207,而以15个STRs对案例3进行亲权鉴定时其CPI=355 869.结论 当应用于亲权鉴定时,单个SNP的亲权排除率值一般不及单个STR的1/3.在排除亲权关系的案例中,就不符合孟德尔遗传规律的遗传标记个数占检测标记总数的比例而言,SNPs系统可能不如STR系统明显.由于SNPs的突变率极低,即使1个SNP位点不符合孟德尔遗传规律也能极大地降低CPI值,故SNPs应用于亲权鉴定时对检测方法有更高的要求.
目的 探索用常染色體單覈苷痠多態性(single nucleotide polymorphisms,SNPs)進行親權鑒定的可行性.方法 下載HapMap(r27)的SNPs分型結果,用自行編寫的計算機程序提取基因頻率在世界11箇人群中一緻分佈于0.30～0.70區間的SNPs,進而選取互不連鎖的96箇SNPs整閤于IlluminaGoldengate微珠芯片中,對3箇父-子-母三聯體親權鑒定案例(共9份樣品)進行SNPs分型,依分型結果計算齣纍積親權指數(cumulative paternity index,CPI)等參數,併與上述案例的短串聯重複序列(short tandem repeats,STRs)分型結果進行對比.結果 案例1的被控父有9箇SNPs或7箇STRs不符閤孟德爾遺傳規律；案例2的被控母有13箇SNPs或7箇STRs不符閤孟德爾遺傳規律；案例3有1箇SNP或0箇STR不符閤孟德爾遺傳規律.以96箇SNPs對案例3進行親權鑒定,其CPI=1207,而以15箇STRs對案例3進行親權鑒定時其CPI=355 869.結論 噹應用于親權鑒定時,單箇SNP的親權排除率值一般不及單箇STR的1/3.在排除親權關繫的案例中,就不符閤孟德爾遺傳規律的遺傳標記箇數佔檢測標記總數的比例而言,SNPs繫統可能不如STR繫統明顯.由于SNPs的突變率極低,即使1箇SNP位點不符閤孟德爾遺傳規律也能極大地降低CPI值,故SNPs應用于親權鑒定時對檢測方法有更高的要求.
목적 탐색용상염색체단핵감산다태성(single nucleotide polymorphisms,SNPs)진행친권감정적가행성.방법 하재HapMap(r27)적SNPs분형결과,용자행편사적계산궤정서제취기인빈솔재세계11개인군중일치분포우0.30～0.70구간적SNPs,진이선취호불련쇄적96개SNPs정합우IlluminaGoldengate미주심편중,대3개부-자-모삼련체친권감정안례(공9빈양품)진행SNPs분형,의분형결과계산출루적친권지수(cumulative paternity index,CPI)등삼수,병여상술안례적단천련중복서렬(short tandem repeats,STRs)분형결과진행대비.결과 안례1적피공부유9개SNPs혹7개STRs불부합맹덕이유전규률；안례2적피공모유13개SNPs혹7개STRs불부합맹덕이유전규률；안례3유1개SNP혹0개STR불부합맹덕이유전규률.이96개SNPs대안례3진행친권감정,기CPI=1207,이이15개STRs대안례3진행친권감정시기CPI=355 869.결론 당응용우친권감정시,단개SNP적친권배제솔치일반불급단개STR적1/3.재배제친권관계적안례중,취불부합맹덕이유전규률적유전표기개수점검측표기총수적비례이언,SNPs계통가능불여STR계통명현.유우SNPs적돌변솔겁저,즉사1개SNP위점불부합맹덕이유전규률야능겁대지강저CPI치,고SNPs응용우친권감정시대검측방법유경고적요구.
Objective To explore the feasibility of applying autosomal single nucleotide polymorphisms (SNPs)on parentage testing.Methods All SNP genotyping results of HapMap (r27) were downloaded from the website.With self-made computer programs,SNPs were extracted when their minor allele frequency (MAF) were ≥ 0.30 among all of the 11 HapMap populations.Ninety-six SNPs were chosen and integrated into the Illumina Goldengate bead arrays on the condition that no linkage disequilibrium was found between them.Three father-child-mother trios (9 samples in total) were tested with the arrays.Cumulative paternity index (CPI) was then calculated and compared with genotyping results using 15 short tandem repeats (STRs) (IdentifilerTM ).Results Family 1 was found to have nine SNPs or seven STRs that did not conform to the Mendelian laws,Family 2 had 13 such SNPs or seven STRs,and Family 3 only had one such SNP but no STR.For Family 3,when all of the 96 SNPs were used in combine,the CPI was 1207,which had contrasted with the CPI by the 15 STRs,i.e.,355 869.Conclusion When applied to paternity testing,the paternity exclusion (PE) value for a SNP is usually less than 1/3 of that of a STR.The proportion of SNPs not comforming to the Mendelian laws for the tested SNPs may not be as high as that of inconsistent STRs over all tested STRs.Because of the low mutation rate of a SNP,the CPI will be greatly reduced even if one SNP did not conform to the Mendelian laws.Therefore,highly accurate testing methods are required to reduce artificial errors when applying SNPs for paternity testing.
