Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
复制标题
确定CFHR3/CFHR1删除的总体频率在第1季度。
DOI：
10.1371/journal.pone.0060352
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Goodship TH
中科院分区：
文献类型：
--
作者：
Holmes LV;Strain L;Staniforth SJ;Moore I;Marchbank K;Kavanagh D;Goodship JA;Cordell HJ;Goodship TH
在这项研究中，我们使用多重连接依赖性探针扩增（MLPA）来测量来自英国的238名个体和来自HGDP-CEPH人类基因组多样性细胞系小组的439名个体的DNA样本中CFHR 3和CFHR 1的拷贝数。然后，我们计算了等位基因频率和频率的纯合性的拷贝数多态性所代表的CFHR 3/CFHR 1缺失。等位基因频率（X ~ 2 = 127.7，DF = 11，P值= 4.97x10 ~（-22））和纯合性频率（X ~ 2 = 142.3，DF = 22，P值= 1.33x10 ~（-19））在地理位置之间存在高度显著性差异。 在来自尼日利亚的DNA样本中，缺失等位基因的频率最高（54.7%），在来自南美和日本的样本中最低（0%）。所观察到的频率连同已知的缺失与AMD、SLE和伊加肾病的关联与非洲裔和欧洲裔美国人中这些疾病的患病率的差异一致。这强调了识别疾病中拷贝数多态性的重要性。
In this study we have used multiplex ligation-dependent probe amplification (MLPA) to measure the copy number of CFHR3 and CFHR1 in DNA samples from 238 individuals from the UK and 439 individuals from the HGDP-CEPH Human Genome Diversity Cell Line Panel. We have then calculated the allele frequency and frequency of homozygosity for the copy number polymorphism represented by the CFHR3/CFHR1 deletion. There was a highly significant difference between geographical locations in both the allele frequency (X2 = 127.7, DF = 11, P-value = 4.97x10-22) and frequency of homozygosity (X2 = 142.3, DF = 22, P-value = 1.33x10-19). The highest frequency for the deleted allele (54.7%) was seen in DNA samples from Nigeria and the lowest (0%) in samples from South America and Japan. The observed frequencies in conjunction with the known association of the deletion with AMD, SLE and IgA nephropathy is in keeping with differences in the prevalence of these diseases in African and European Americans. This emphasises the importance of identifying copy number polymorphism in disease.
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影响因子：
30.8
作者：
Hughes, Anne E.;Orr, Nick;Chakravarthy, Usha
通讯作者：
Chakravarthy, Usha
DOI：
10.1073/pnas.1017511108
发表时间：
2011-03-29
影响因子：
11.1
作者：
Henn, Brenna M.;Gignoux, Christopher R.;Feldman, Marcus W.
通讯作者：
Feldman, Marcus W.
影响因子：
4.4
作者：
Kimura, Y;Inoue, N;Seya, T
通讯作者：
Seya, T
影响因子：
20.3
作者：
Heinen, Stefan;Hartmann, Andrea;Skerka, Christine
通讯作者：
Skerka, Christine
影响因子：
19.6
作者：
JENNETTE, JC;WALL, SD;WILKMAN, AS
通讯作者：
WILKMAN, AS