Fertility variation and effective number of parents were estimated in the 100 individuals from each of three plantation populations (P1, P2 and P3) of the endangered Pinus nigra. subsp. pallasiana var. pyramidata esta...Fertility variation and effective number of parents were estimated in the 100 individuals from each of three plantation populations (P1, P2 and P3) of the endangered Pinus nigra. subsp. pallasiana var. pyramidata established in the Isparta-Golcuk district in southern Turkey in 1990. Potential relations between cone yield and growth characters (height, diameter at breast height, diameter at base and crown diameter) were also investigated. Large differences were found among populations and within populations for cone production and growth characters. Mean cone production was eight (ranging from 6.5 in P2 to 9.1 in P1) for the three populations. The 10 most productive individuals for cones produced 32% of the total cones in P1, 39% in P2 and 34% in P3; 21, 16 and 6 individuals, respectively did not produce any cones in the populations. According to the correlation analyses, the relation between cone yield and growth characters changed for the populations, while height, diameter at breast height and crown diameter were positively significantly correlated (r = 0.182, 0.135 and 0.209; p ≤ 0.05) with cone production for the three populations. Fertility variation was 1.81 in total of three populations, ranging from 1.72 in P3 to 3.45 in P1). Effective number of parents was 142 (55.2 of number of parents censused; 29%, P1; 49.8%, P2; 58.3%, P3).展开更多
目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术中的亲缘分析在判断基因组拷贝数变异(copy number variations,CNVs)临床意义中的作用。方法本研究为回顾性研究。收集2017年11月至2019年12月在北京大学第一医院实...目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术中的亲缘分析在判断基因组拷贝数变异(copy number variations,CNVs)临床意义中的作用。方法本研究为回顾性研究。收集2017年11月至2019年12月在北京大学第一医院实验中心行产前诊断的73例核心家系的临床资料。检测指征包括超声异常54例(其中伴颈部透明层厚度≥2.5 mm 12例,胎儿生长受限4例,既往不良孕产史7例,单纯超声异常31例),无创产前基因检测高风险4例,高龄妊娠9例,单纯既往不良孕产史3例,胎死宫内2例,孕妇智力障碍1例。使用基因组DNA提取试剂盒提取羊水细胞、绒毛、脐血、胎儿组织和胎心血DNA。采用基于微阵列的比较基因组杂交技术和单核苷酸多态性微阵列技术分析73例产前样本CNVs。取孕妇及其丈夫(必要时相关亲属)外周血DNA做相同检测。总结CMA亲缘检测结果。采用描述性统计分析。结果73例样本共检出76个CNVs,其中检出9个致病性CNVs,经过亲缘检测分析后6个为新发变异,2个母源,1个父源;检出6个可能致病性CNVs,3个为新发变异,2个母源,1个父源;检出20个临床意义不明的CNVs,5个父源,3个母源,其余12个为新发变异;41个可能良性CNVs,其中38个来自表型正常的父母。结论产前诊断时亲缘分析对胎儿CNVs的临床意义解读有重要意义,可以帮助判断CNVs的临床意义和再生育风险。展开更多
基金financially supported by The Scientific and Technological Research Council of Turkey-TUBITAK(Project No:TOVAG-114O820)
文摘Fertility variation and effective number of parents were estimated in the 100 individuals from each of three plantation populations (P1, P2 and P3) of the endangered Pinus nigra. subsp. pallasiana var. pyramidata established in the Isparta-Golcuk district in southern Turkey in 1990. Potential relations between cone yield and growth characters (height, diameter at breast height, diameter at base and crown diameter) were also investigated. Large differences were found among populations and within populations for cone production and growth characters. Mean cone production was eight (ranging from 6.5 in P2 to 9.1 in P1) for the three populations. The 10 most productive individuals for cones produced 32% of the total cones in P1, 39% in P2 and 34% in P3; 21, 16 and 6 individuals, respectively did not produce any cones in the populations. According to the correlation analyses, the relation between cone yield and growth characters changed for the populations, while height, diameter at breast height and crown diameter were positively significantly correlated (r = 0.182, 0.135 and 0.209; p ≤ 0.05) with cone production for the three populations. Fertility variation was 1.81 in total of three populations, ranging from 1.72 in P3 to 3.45 in P1). Effective number of parents was 142 (55.2 of number of parents censused; 29%, P1; 49.8%, P2; 58.3%, P3).
文摘目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术中的亲缘分析在判断基因组拷贝数变异(copy number variations,CNVs)临床意义中的作用。方法本研究为回顾性研究。收集2017年11月至2019年12月在北京大学第一医院实验中心行产前诊断的73例核心家系的临床资料。检测指征包括超声异常54例(其中伴颈部透明层厚度≥2.5 mm 12例,胎儿生长受限4例,既往不良孕产史7例,单纯超声异常31例),无创产前基因检测高风险4例,高龄妊娠9例,单纯既往不良孕产史3例,胎死宫内2例,孕妇智力障碍1例。使用基因组DNA提取试剂盒提取羊水细胞、绒毛、脐血、胎儿组织和胎心血DNA。采用基于微阵列的比较基因组杂交技术和单核苷酸多态性微阵列技术分析73例产前样本CNVs。取孕妇及其丈夫(必要时相关亲属)外周血DNA做相同检测。总结CMA亲缘检测结果。采用描述性统计分析。结果73例样本共检出76个CNVs,其中检出9个致病性CNVs,经过亲缘检测分析后6个为新发变异,2个母源,1个父源;检出6个可能致病性CNVs,3个为新发变异,2个母源,1个父源;检出20个临床意义不明的CNVs,5个父源,3个母源,其余12个为新发变异;41个可能良性CNVs,其中38个来自表型正常的父母。结论产前诊断时亲缘分析对胎儿CNVs的临床意义解读有重要意义,可以帮助判断CNVs的临床意义和再生育风险。
