Single nucleotide polymorphisms （SNP） of chicken gonadotropin-releasing hormone receptor （GnRHR） and neuropeptide Y （NPY） were selected to identify the genotypes of Wenchang （Chinese indigenous breed） chicken ...Single nucleotide polymorphisms （SNP） of chicken gonadotropin-releasing hormone receptor （GnRHR） and neuropeptide Y （NPY） were selected to identify the genotypes of Wenchang （Chinese indigenous breed） chicken with restricton fragment length polymorphisms. The associations of the SNPs with the total egg production （NE）, average days of continual laying （ADCL）, and number of double-yolked eggs （DYE） traits were analyzed. The frequency of restriction enzyme A/a alleles in the population was for GnRHR 0.69 （Bpu1102 Ⅰ A） and 0.31 （Bpu1102 Ⅰ a） and for NPY 0.46 （Dra Ⅰ B） and 0.54 （Dra Ⅰ b）. Trait data from a total of 120 hens, which were purebred introduced from Hainan Province, China from one generation were recorded. Two significant effects of genes＇ marker were found： for GnRHR and number of eggs （dominant; t= 2.67, df= 116） and NPY and number of eggs （additive; t= 1.97, df= 116）. The current research supports the effects of GnRHR and NPY genes on egg-laying traits of chickens.展开更多
全基因组关联分析(genome-wide association study,GWAS)是2005年左右出现的一种用于开展连锁标记开发和基因挖掘等研究的有效方法,并在多种作物中得到了广泛应用。本研究阐述了GWAS的原理、优点和主要研究方法以及在粮食作物、经济作...全基因组关联分析(genome-wide association study,GWAS)是2005年左右出现的一种用于开展连锁标记开发和基因挖掘等研究的有效方法,并在多种作物中得到了广泛应用。本研究阐述了GWAS的原理、优点和主要研究方法以及在粮食作物、经济作物、糖料作物等作物中的研究进展,同时对作物GWAS研究的未来进行了展望,以期为进一步利用GWAS进行作物各种性状遗传基础的研究提供参考。展开更多
Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseas...Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.展开更多
本研究旨在了解酪氨酸酶相关蛋白1(tyrosinase related protein 1,TYRP1)基因在中国地方绵羊群体内的遗传变异,以及TYRP1基因突变与不同毛色表型绵羊群体的相关性。通过直接测序法和PCR-RFLP技术对10个中国地方绵羊群体进行单核苷酸多态...本研究旨在了解酪氨酸酶相关蛋白1(tyrosinase related protein 1,TYRP1)基因在中国地方绵羊群体内的遗传变异,以及TYRP1基因突变与不同毛色表型绵羊群体的相关性。通过直接测序法和PCR-RFLP技术对10个中国地方绵羊群体进行单核苷酸多态性(SNP)检测,利用Beagle、PLINK和POPGENE等软件对突变位点数据进行单倍型构建、连锁不平衡分析和遗传变异研究。突变位点检测结果表明,在绵羊TYRP1基因内识别了13个SNPs,其中位于TYRP1基因外显子上的10个SNPs位点,除个别位点在大尾寒羊、中国美利奴羊和岷县黑裘皮羊中没有发生突变外,其他突变位点在所有绵羊品种中均出现不同程度变异,说明中国地方绵羊群体具有较高的遗传多样性。单倍型分析结果表明,所有样本中共有42个单倍型,优势单倍型0000000000(245/918)、0100000001(91/918)在所有绵羊群体中均存在,除单倍型0101100000(93/918)在中国美利奴羊中没有出现,单倍型0001000001(69/918)在岷县黑裘皮羊、哈萨克羊群体中没有出现外,在其他群体中均存在。连锁分析结果表明,10个SNPs在所有样本中均存在2个连锁模块。群体遗传变异分析表明,中国地方绵羊群体具有较高水平的群体内遗传变异,各绵羊品种间存在明显的遗传分化模式,且各品种遗传关系与其品种传统分类结果基本一致。本研究为进一步研究TYRP1基因对绵羊毛色遗传性状的影响提供了参考依据。展开更多
文摘Single nucleotide polymorphisms （SNP） of chicken gonadotropin-releasing hormone receptor （GnRHR） and neuropeptide Y （NPY） were selected to identify the genotypes of Wenchang （Chinese indigenous breed） chicken with restricton fragment length polymorphisms. The associations of the SNPs with the total egg production （NE）, average days of continual laying （ADCL）, and number of double-yolked eggs （DYE） traits were analyzed. The frequency of restriction enzyme A/a alleles in the population was for GnRHR 0.69 （Bpu1102 Ⅰ A） and 0.31 （Bpu1102 Ⅰ a） and for NPY 0.46 （Dra Ⅰ B） and 0.54 （Dra Ⅰ b）. Trait data from a total of 120 hens, which were purebred introduced from Hainan Province, China from one generation were recorded. Two significant effects of genes＇ marker were found： for GnRHR and number of eggs （dominant; t= 2.67, df= 116） and NPY and number of eggs （additive; t= 1.97, df= 116）. The current research supports the effects of GnRHR and NPY genes on egg-laying traits of chickens.
文摘全基因组关联分析(genome-wide association study,GWAS)是2005年左右出现的一种用于开展连锁标记开发和基因挖掘等研究的有效方法,并在多种作物中得到了广泛应用。本研究阐述了GWAS的原理、优点和主要研究方法以及在粮食作物、经济作物、糖料作物等作物中的研究进展,同时对作物GWAS研究的未来进行了展望,以期为进一步利用GWAS进行作物各种性状遗传基础的研究提供参考。
文摘Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.
文摘本研究旨在了解酪氨酸酶相关蛋白1(tyrosinase related protein 1,TYRP1)基因在中国地方绵羊群体内的遗传变异,以及TYRP1基因突变与不同毛色表型绵羊群体的相关性。通过直接测序法和PCR-RFLP技术对10个中国地方绵羊群体进行单核苷酸多态性(SNP)检测,利用Beagle、PLINK和POPGENE等软件对突变位点数据进行单倍型构建、连锁不平衡分析和遗传变异研究。突变位点检测结果表明,在绵羊TYRP1基因内识别了13个SNPs,其中位于TYRP1基因外显子上的10个SNPs位点,除个别位点在大尾寒羊、中国美利奴羊和岷县黑裘皮羊中没有发生突变外,其他突变位点在所有绵羊品种中均出现不同程度变异,说明中国地方绵羊群体具有较高的遗传多样性。单倍型分析结果表明,所有样本中共有42个单倍型,优势单倍型0000000000(245/918)、0100000001(91/918)在所有绵羊群体中均存在,除单倍型0101100000(93/918)在中国美利奴羊中没有出现,单倍型0001000001(69/918)在岷县黑裘皮羊、哈萨克羊群体中没有出现外,在其他群体中均存在。连锁分析结果表明,10个SNPs在所有样本中均存在2个连锁模块。群体遗传变异分析表明,中国地方绵羊群体具有较高水平的群体内遗传变异,各绵羊品种间存在明显的遗传分化模式,且各品种遗传关系与其品种传统分类结果基本一致。本研究为进一步研究TYRP1基因对绵羊毛色遗传性状的影响提供了参考依据。
