Abstract：
:DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-seven of 1,528 individuals were heterozygous for the 1226G (N370S) mutation, and four presumably well persons were homozygous for this mutation. The gene frequency for the 1226G allele was calculated to be .0311, and when these data were pooled with those obtained previously from another 593 Jewish subjects, a gene frequency of .032 with a standard error of .004 was found. Among 2,305 normal subjects, 10 were found to be heterozygous for the 84GG allele, giving a gene frequency of .00217 with a standard error of .00096. No examples of the IVS2(+1) mutation were found among 1,256 samples screened, and no 1448C (L444P) mutations were found among 1,528 samples examined. Examination of the distribution of Gaucher disease gene frequencies in the general population shows that the ratio of 1226G mutations to 84GG mutations is higher than that in the patient population. This is presumed to be due to the fact that homozygotes for the 1226G mutation often have late-onset disease or no significant clinical manifestations at all. To bring the gene frequency in the patient population into conformity with the gene frequency in the general population, nearly two-thirds of persons with a Gaucher disease genotype would be missing from the patient population, presumably because their clinical manifestations were very mild.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Beutler E,Nguyen NJ,Henneberger MW,Smolec JM,McPherson RA,West C,Gelbart Tsubject
Has Abstractpub_date
1993-01-01 00:00:00pages
85-8issue
1eissn
0002-9297issn
1537-6605journal_volume
52pub_type
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,评审
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更新日期：2017-08-03 00:00:00
abstract：:Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic tes...
journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/303091
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1991-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
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pub_type： 杂志文章,meta分析
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更新日期：2004-08-01 00:00:00
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pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1986-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/508571
更新日期：2006-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/318190
更新日期：2001-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1981-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,收录出版
doi：10.1016/j.ajhg.2011.05.009
更新日期：2011-06-10 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/320100
更新日期：2001-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2013-04-04 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2000-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/422013
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-08-01 00:00:00
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pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1999-10-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1999-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
