目的对600个云南壮族人群15个常染色体短串联重复(short tandem repeat,STR)序列基因座的遗传多态性进行调查,探讨云南壮族群体遗传学特性及在法医学中的应用价值。方法使用AmpFLSTR^■Identifiler^■Direct PCR扩增试剂盒对此地区600...目的对600个云南壮族人群15个常染色体短串联重复(short tandem repeat,STR)序列基因座的遗传多态性进行调查,探讨云南壮族群体遗传学特性及在法医学中的应用价值。方法使用AmpFLSTR^■Identifiler^■Direct PCR扩增试剂盒对此地区600名壮族无关个体血样DNA进行PCR扩增,采用Modified Powerstats软件计算等位基因频率及法医学参数(观察杂合度、期望杂合度、个体识别率、多态信息含量),应用Arlequin 3.5软件检验各基因座Hardy-Weinberg平衡及连锁不平衡,再比较其他群体的遗传距离。结果云南壮族各基因座个体识别能力(DP)值分布在0.7790~0.9744之间,累计个体识别概率(CDP)达到0.99999999999999999156,非父排除率值范围在0.2869~0.7213,云南壮族与贵州布依族、贵州侗族、广西毛南族、广西仫佬族遗传距离比较接近。结论该试剂盒的15个STR基因座在云南壮族人群中具有高度的多态性,可供法医学个体识别和亲权鉴定,亦可为群体遗传学种族迁徙、语言学语言分支区分、社会学风俗探究等提供基础性研究数据。展开更多
Early-and late-onset narcolepsy constitutes two distinct diagnostic subgroups.However,it is not clear whether symptomology and genetic risk factors differ between early-and late-onset narcoleptics.This study compared ...Early-and late-onset narcolepsy constitutes two distinct diagnostic subgroups.However,it is not clear whether symptomology and genetic risk factors differ between early-and late-onset narcoleptics.This study compared clinical data and single-nucleotide polymorphisms(SNPs)between early-and late-onset patients in a large cohort of 899 Han Chinese narcolepsy patients.Blood,cerebrospinal fluid,and clinical data were prospectively collected from patients,and patients were genotyped for 40 previously reported narcolepsy risk-conferring SNPs.Genetic risk scores(GRSs),associations of five different sets of SNPs(GRS1–GRS5)with early-and late-onset narcolepsy,were evaluated using logistic regression and receiver operating characteristic curves.Mean sleep latency was significantly shorter in early-onset cases than in late-onset cases.Symptom severity was greater among late-onset patients,with higher rates of sleep paralysis,hypnagogic hallucinations,health-related quality of life impairment,and concurrent presentation with four or more symptoms.Hypocretin levels did not differ significantly between early-and late-onset cases.Only rs3181077(CCR1/CCR3)and rs9274477(HLA-DQB1)were more prevalent among early-onset cases.Only GRS1(26 SNPs;OR=1.513,95%CI:0.893–2.585;P<0.05)and GRS5(6 SNPs;OR=1.893,95%CI:1.204–2.993;P<0.05)were associated with early-onset narcolepsy,with areas under the receiver operating characteristic curves of 0.731 and 0.732,respectively.Neither GRS1 nor GRS5 included SNPs in HLA regions.Our results indicate that symptomology and genetic risk factors differ between early-and late-onset narcolepsy.This protocol was approved by the Institutional Review Board(IRB)Panels on Medical Human Subjects at Peking University People’s Hospital,China(approval No.Yuanlunshenlinyi 86)in October 2011.展开更多
Assessment of genetic diversity of the indigenous crop accessions is extremely important for breeders to identify potential parents in cross-breeding programs. Fourteen cowpea accessions collected from different part&...Assessment of genetic diversity of the indigenous crop accessions is extremely important for breeders to identify potential parents in cross-breeding programs. Fourteen cowpea accessions collected from different part<span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">s</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> of Sudan were used for characterization at morphological and molecular levels. The seeds of the accessions were sown in the field using a randomized complete block design with three replicates. Sixteen morphological descriptors (9 qualitative and 7 quantitative) and 20 Random Amplified Polymorphic DNA (RAPD) markers were used for characterization of the accessions. The results of morphological data revealed considerable variability within and between state’s accessions. Some morphological traits revealed similarity between accessions from different states. Among the 20 RAPD markers used, 18 were polymorphic. A total of 379 polymorphic patterns were generated;polymorphic information content (PIC) ranged from 0.63 to 0.98 with an average of 0.9. The number of fragment detected ranged from 2 for OPL-11 to 51 for OPY-2 with an average of 26.06/primer and 27.07/genotype. One to five (1</span></span></span><span><span><span style="font-family:;" "=""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">-</span></span></span><span><span><span style="font-family:;" "=""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">5) unique fragments of different sizes were detected for particular accessions, which may provide a valuable resource for breeding superior cowpea cultivars in Sudan and other semi-arid zones. Genetic similarity was ranged from 0.02 to 0.47 with an average of 0.25. Highest genetic similarity was between genotypes HS展开更多
基金This study was supported by the Research Project of Central Health Care Special Fund,China,No.W2017BJ52(to JZ).
文摘Early-and late-onset narcolepsy constitutes two distinct diagnostic subgroups.However,it is not clear whether symptomology and genetic risk factors differ between early-and late-onset narcoleptics.This study compared clinical data and single-nucleotide polymorphisms(SNPs)between early-and late-onset patients in a large cohort of 899 Han Chinese narcolepsy patients.Blood,cerebrospinal fluid,and clinical data were prospectively collected from patients,and patients were genotyped for 40 previously reported narcolepsy risk-conferring SNPs.Genetic risk scores(GRSs),associations of five different sets of SNPs(GRS1–GRS5)with early-and late-onset narcolepsy,were evaluated using logistic regression and receiver operating characteristic curves.Mean sleep latency was significantly shorter in early-onset cases than in late-onset cases.Symptom severity was greater among late-onset patients,with higher rates of sleep paralysis,hypnagogic hallucinations,health-related quality of life impairment,and concurrent presentation with four or more symptoms.Hypocretin levels did not differ significantly between early-and late-onset cases.Only rs3181077(CCR1/CCR3)and rs9274477(HLA-DQB1)were more prevalent among early-onset cases.Only GRS1(26 SNPs;OR=1.513,95%CI:0.893–2.585;P<0.05)and GRS5(6 SNPs;OR=1.893,95%CI:1.204–2.993;P<0.05)were associated with early-onset narcolepsy,with areas under the receiver operating characteristic curves of 0.731 and 0.732,respectively.Neither GRS1 nor GRS5 included SNPs in HLA regions.Our results indicate that symptomology and genetic risk factors differ between early-and late-onset narcolepsy.This protocol was approved by the Institutional Review Board(IRB)Panels on Medical Human Subjects at Peking University People’s Hospital,China(approval No.Yuanlunshenlinyi 86)in October 2011.
文摘Assessment of genetic diversity of the indigenous crop accessions is extremely important for breeders to identify potential parents in cross-breeding programs. Fourteen cowpea accessions collected from different part<span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">s</span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"> of Sudan were used for characterization at morphological and molecular levels. The seeds of the accessions were sown in the field using a randomized complete block design with three replicates. Sixteen morphological descriptors (9 qualitative and 7 quantitative) and 20 Random Amplified Polymorphic DNA (RAPD) markers were used for characterization of the accessions. The results of morphological data revealed considerable variability within and between state’s accessions. Some morphological traits revealed similarity between accessions from different states. Among the 20 RAPD markers used, 18 were polymorphic. A total of 379 polymorphic patterns were generated;polymorphic information content (PIC) ranged from 0.63 to 0.98 with an average of 0.9. The number of fragment detected ranged from 2 for OPL-11 to 51 for OPY-2 with an average of 26.06/primer and 27.07/genotype. One to five (1</span></span></span><span><span><span style="font-family:;" "=""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">-</span></span></span><span><span><span style="font-family:;" "=""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">5) unique fragments of different sizes were detected for particular accessions, which may provide a valuable resource for breeding superior cowpea cultivars in Sudan and other semi-arid zones. Genetic similarity was ranged from 0.02 to 0.47 with an average of 0.25. Highest genetic similarity was between genotypes HS