How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.
How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.
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DOI：
10.1002/ajmg.a.34087
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发表时间：
2011-08
影响因子：
2
通讯作者：
Alter, Blanche P.
中科院分区：
文献类型：
--
作者：
Rosenberg, Philip S.;Tamary, Hannah;Alter, Blanche P.
For many recessive genetic syndromes, carrier frequencies have been assessed through screening studies in founder populations but remain unclear in heterogeneous populations. One such syndrome is Fanconi Anemia (FA). FA is a model disease in cancer research, yet there are no contemporary data on carrier frequency or prevalence in the general United States (US) population or elsewhere. We inferred carrier frequency from birth incidence using the Hardy-Weinberg law. We estimated prevalence using birth incidence and survival data. We defined “plausible ranges” to incorporate uncertainty about completeness of case ascertainment. We made estimates for the US and Israel using demographic data from the Fanconi Anemia Research Fund and Israeli Fanconi Anemia Registry. In the US, a plausible range for the carrier frequency is 1:156 – 1:209 [midpoint 1:181]; we estimate that 550 – 975 persons were living with FA in 2010. For Israel, a plausible range for the carrier frequency is 1:66 – 1:128 [midpoint 1:93] in line with founder screening studies; we estimate that 40 – 135 Israelis were living with FA in 2008. The estimated US FA carrier frequency of 1:181 is significantly higher than the historical estimate of 1:300; hence, the gap may be narrower than previously recognized between the US carrier frequency and higher carrier frequencies of around 1:100 in several founder groups including Ashkenazi Jews. Assessment of cancer risks in heterozygous carriers merits further study. Clinical trials in FA will require co-ordination and innovative design because the number of living US patients is probably less than 1,000.
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DOI：
10.1056/nejmra0809889
发表时间：
2010-05-20
期刊：
The New England journal of medicine
影响因子：
--
作者：
D'Andrea AD
通讯作者：
D'Andrea AD
影响因子：
20.3
作者：
Kutler, DI;Singh, B;Auerbach, AD
通讯作者：
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影响因子：
20.3
作者：
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通讯作者：
AUERBACH, AD
DOI：
10.1590/s0100-879x2005000500003
发表时间：
2005-05-01
影响因子：
2.3
作者：
Magdalena, N.;Pilonetto, D.V.;Pasquini, R.
通讯作者：
Pasquini, R.
影响因子：
1.9
作者：
Korgaonkar, Seema;Ghosh, Kanjaksha;Vundinti, Babu Rao
通讯作者：
Vundinti, Babu Rao