目的:比较15个STR基因座基因频率在厦门地区大肠癌患者和正常人群中的分布,推测与大肠癌相关的基因．方法:应用PCR复合扩增结合四色荧光检测方法对血样DNA进行基因型分析,调查了本地区大肠癌患者人群和无关人群的基因频率分布,并根据二...目的:比较15个STR基因座基因频率在厦门地区大肠癌患者和正常人群中的分布,推测与大肠癌相关的基因．方法:应用PCR复合扩增结合四色荧光检测方法对血样DNA进行基因型分析,调查了本地区大肠癌患者人群和无关人群的基因频率分布,并根据二者的该15个基因座等位基因频率分布的显著性差异,推测易感连锁和抗性连锁的等位基因．结果:厦门地区大肠癌患者的D5S818(0．5200 vs 0,219 5,X2=36．69,P<0．01;RR=3．8521, P<0．05)、vWA(0．0500 vs 0．2927,X2=53．99, P<0．01;RR=0．1272,P<0．05)和FAG(0．09 vs 0．2439,X2=37．58,P<0．01:RR=0．3066, P<0．05)基因座的等位基因的分布与该地区健康人群有显著性差异,(P<0．01)．B组超微结构改变明显,而C组较B组超微结构有不同程度减轻．结论:D5S818-11附近可能存在大肠癌易感基因;vWA-15、FAG-23附近有可能存在与大肠癌相关的抗性基因．展开更多
目的研究中国云南彝族人群的群体遗传结构。方法选择9个短串联重复序列（short tandem repeats，STR）位点（D3S1358、vWA、FGA、TH01、TPOX、CSFlPO、D5S818、D13S317、D7S820），采用STR复合扩增及荧光标记STR基因扫描技术，检测84名...目的研究中国云南彝族人群的群体遗传结构。方法选择9个短串联重复序列（short tandem repeats，STR）位点（D3S1358、vWA、FGA、TH01、TPOX、CSFlPO、D5S818、D13S317、D7S820），采用STR复合扩增及荧光标记STR基因扫描技术，检测84名彝族无关个体血液样本。结果9个STR位点在84名云南彝族共检出69种等位片段，频率分布在0．0060-0．5060之间；检出164种基因型，频率分布在0．0119-0．4167之间。9个STR位点的基因型分布符合Hardy．Weinberg平衡定律（P〉0．05）。9个位点多态信息量分布在0．5804-0．8777之间，杂合度分布在0．6507～0．8002之间，个体识别力分布在0．7976-0．9558之间，除TPOX，TH01两个位点低于0．5外，其余7个位点的非父排除率分布在0．5207～0．8386之间。Neighbor joining（NJ）法构建彝族与云南地区其他11个少数民族的系统进化树显示：彝族首先与白族、普米族、德昂族、阿昌族、独龙族、怒族聚在一起，然后与傈僳族、傣族相聚，最后与景颇族、苗族、纳西族相聚。绪论获得了云南彝族9个STR位点的遗传多态数据，在人类群体遗传数据库建设、法医学亲权鉴定和个体识别研究及应用领域有重要价值。展开更多
【目的】研究海南黎族族人群15个STR位点D3S1358、TH01、D21S11、D18S51、VWA、CSF1PO、D8S1179、TPOX、FGA、D5S818、D13S317、D7S820、D16S539、D19S433、D2S1338的遗传多态性。【方法】通过人类短串联重复序列(short tandem repeat，...【目的】研究海南黎族族人群15个STR位点D3S1358、TH01、D21S11、D18S51、VWA、CSF1PO、D8S1179、TPOX、FGA、D5S818、D13S317、D7S820、D16S539、D19S433、D2S1338的遗传多态性。【方法】通过人类短串联重复序列(short tandem repeat，STR)复合扩增、基因扫描、基因分型调查了110名黎族无关个体15个STR位点等位基因分布情况。【结果】15个STR位点均符合Hardy-Weinberg平衡，共检出149个STR等位基因，其频率分布在0.0045～0.5045之间，杂合度(heterozygosity，H)为0.6716～0.8754，个体识别力(discrimination power，DP)为0.8770～0.9673，非父排除率(probabilities of paternity exclusion，EPP)为0.4383～0.7396，多态信息含量(polymorphic information content，PIC)为0.6265～0.8574。【结论】选用的15个STR位点均能检出等位基因遗传多态性，并具有较丰富的信息含量，为进一步研究中华民族STR遗传结构提供了基础资料。展开更多
Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects...Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects We identified autosomal dominant congenital coralliform cataracts-related genetic defect in a four-generation Chinese family Methods Complete ophthalmological examinations were performed prior to lens extraction Lens samples were then studied by electron microscopy Genomic DNA from family members were examined using whole-genomic linkage analysis, with two-point logarithm of odds (LOD) scores calculated using the Linkage program package (version 5 1) Mutation analysis of candidate genes was performed by direct sequencing Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2 0) Results Eleven of the 23 examined individuals had congenital cataracts Ultrastructure studies revealed crystal deposits in the lens, and granules extensively dispersed in transformed lens fiber cells The maximum two-point LOD score, 3 5 at θ=0 1, was obtained for the marker D2S325 Mutation analysis of the γ-crystallin (CRYG) gene cluster identified a mutation (P23T) in exon 2 of γD-crystallin (CRYGD) Protein structure modeling demonstrated that the P23T mutation caused a subtle change on the surface of the γD protein Conclusions The results suggest that the coralliform cataract phenotype is due to a mutated CRYGD gene, and that this sequence change is identical to one reported by Santhiya to be related to another distinct clinical condition, lamellar cataract This study provides evidence that this same genetic defect may be associated with a different phenotype This is the first report identifying the genetic defect associated with an autosomal dominant congenital coralliform cataract展开更多
文摘目的:比较15个STR基因座基因频率在厦门地区大肠癌患者和正常人群中的分布,推测与大肠癌相关的基因．方法:应用PCR复合扩增结合四色荧光检测方法对血样DNA进行基因型分析,调查了本地区大肠癌患者人群和无关人群的基因频率分布,并根据二者的该15个基因座等位基因频率分布的显著性差异,推测易感连锁和抗性连锁的等位基因．结果:厦门地区大肠癌患者的D5S818(0．5200 vs 0,219 5,X2=36．69,P<0．01;RR=3．8521, P<0．05)、vWA(0．0500 vs 0．2927,X2=53．99, P<0．01;RR=0．1272,P<0．05)和FAG(0．09 vs 0．2439,X2=37．58,P<0．01:RR=0．3066, P<0．05)基因座的等位基因的分布与该地区健康人群有显著性差异,(P<0．01)．B组超微结构改变明显,而C组较B组超微结构有不同程度减轻．结论:D5S818-11附近可能存在大肠癌易感基因;vWA-15、FAG-23附近有可能存在与大肠癌相关的抗性基因．
文摘目的研究中国云南彝族人群的群体遗传结构。方法选择9个短串联重复序列（short tandem repeats，STR）位点（D3S1358、vWA、FGA、TH01、TPOX、CSFlPO、D5S818、D13S317、D7S820），采用STR复合扩增及荧光标记STR基因扫描技术，检测84名彝族无关个体血液样本。结果9个STR位点在84名云南彝族共检出69种等位片段，频率分布在0．0060-0．5060之间；检出164种基因型，频率分布在0．0119-0．4167之间。9个STR位点的基因型分布符合Hardy．Weinberg平衡定律（P〉0．05）。9个位点多态信息量分布在0．5804-0．8777之间，杂合度分布在0．6507～0．8002之间，个体识别力分布在0．7976-0．9558之间，除TPOX，TH01两个位点低于0．5外，其余7个位点的非父排除率分布在0．5207～0．8386之间。Neighbor joining（NJ）法构建彝族与云南地区其他11个少数民族的系统进化树显示：彝族首先与白族、普米族、德昂族、阿昌族、独龙族、怒族聚在一起，然后与傈僳族、傣族相聚，最后与景颇族、苗族、纳西族相聚。绪论获得了云南彝族9个STR位点的遗传多态数据，在人类群体遗传数据库建设、法医学亲权鉴定和个体识别研究及应用领域有重要价值。
文摘【目的】研究海南黎族族人群15个STR位点D3S1358、TH01、D21S11、D18S51、VWA、CSF1PO、D8S1179、TPOX、FGA、D5S818、D13S317、D7S820、D16S539、D19S433、D2S1338的遗传多态性。【方法】通过人类短串联重复序列(short tandem repeat，STR)复合扩增、基因扫描、基因分型调查了110名黎族无关个体15个STR位点等位基因分布情况。【结果】15个STR位点均符合Hardy-Weinberg平衡，共检出149个STR等位基因，其频率分布在0.0045～0.5045之间，杂合度(heterozygosity，H)为0.6716～0.8754，个体识别力(discrimination power，DP)为0.8770～0.9673，非父排除率(probabilities of paternity exclusion，EPP)为0.4383～0.7396，多态信息含量(polymorphic information content，PIC)为0.6265～0.8574。【结论】选用的15个STR位点均能检出等位基因遗传多态性，并具有较丰富的信息含量，为进一步研究中华民族STR遗传结构提供了基础资料。
文摘Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects We identified autosomal dominant congenital coralliform cataracts-related genetic defect in a four-generation Chinese family Methods Complete ophthalmological examinations were performed prior to lens extraction Lens samples were then studied by electron microscopy Genomic DNA from family members were examined using whole-genomic linkage analysis, with two-point logarithm of odds (LOD) scores calculated using the Linkage program package (version 5 1) Mutation analysis of candidate genes was performed by direct sequencing Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2 0) Results Eleven of the 23 examined individuals had congenital cataracts Ultrastructure studies revealed crystal deposits in the lens, and granules extensively dispersed in transformed lens fiber cells The maximum two-point LOD score, 3 5 at θ=0 1, was obtained for the marker D2S325 Mutation analysis of the γ-crystallin (CRYG) gene cluster identified a mutation (P23T) in exon 2 of γD-crystallin (CRYGD) Protein structure modeling demonstrated that the P23T mutation caused a subtle change on the surface of the γD protein Conclusions The results suggest that the coralliform cataract phenotype is due to a mutated CRYGD gene, and that this sequence change is identical to one reported by Santhiya to be related to another distinct clinical condition, lamellar cataract This study provides evidence that this same genetic defect may be associated with a different phenotype This is the first report identifying the genetic defect associated with an autosomal dominant congenital coralliform cataract
