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1
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.布卢姆综合征。六、以色列的该疾病情况及对阿什肯纳兹人群中基因频率的估计。
Am J Hum Genet. 1977 Nov;29(6):553-62.
2
Bloom's syndrome. V. Surveillance for cancer in affected families.布卢姆综合征。五、对患病家族进行癌症监测。
Clin Genet. 1977 Sep;12(3):162-8. doi: 10.1111/j.1399-0004.1977.tb00919.x.
3
Sister chromatid exchange and cell cycle in fibroblasts of Bloom's syndrome.布卢姆综合征成纤维细胞中的姐妹染色单体交换与细胞周期
Hum Genet. 1979 Apr 17;48(1):73-9. doi: 10.1007/BF00273277.
4
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.布卢姆综合征淋巴细胞中姐妹染色单体交换的多重增加。
Proc Natl Acad Sci U S A. 1974 Nov;71(11):4508-12. doi: 10.1073/pnas.71.11.4508.
5
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro.布卢姆综合征淋巴细胞在体外的异常免疫反应。
J Clin Invest. 1975 Jul;56(1):1-7. doi: 10.1172/JCI108058.
6
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.布卢姆综合征。III. 该疾病染色体畸变特征分析。
Chromosoma. 1974;48(4):361-6. doi: 10.1007/BF00290993.
7
Denouement and discussion. Bloom's syndrome. (Congenital telangiectasis erythema and stunted growth).结局与讨论。布卢姆综合征。（先天性毛细血管扩张性红斑和生长发育迟缓）
Am J Dis Child. 1966 Dec;112(6):581-2.
8
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes.布卢姆综合征。IV. 淋巴细胞中的姐妹染色单体交换
Am J Hum Genet. 1977 May;29(3):248-55.
9
Sister chromatid exchanges in Bloom's syndrome.布卢姆综合征中的姐妹染色单体交换
Arch Dermatol. 1978 May;114(5):755-60.
10
Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.布卢姆综合征和范科尼贫血：两种独特的染色体断裂和重排模式的证明。
Humangenetik. 1974;25(4):299-306. doi: 10.1007/BF00336905.

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Bloom syndrome patients and mice display accelerated epigenetic aging.布卢姆综合征患者和小鼠表现出加速的表观遗传衰老。
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Trends Mol Med. 2017 Aug;23(8):737-755. doi: 10.1016/j.molmed.2017.06.004. Epub 2017 Jul 20.
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Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.布卢姆综合征：临床谱、分子发病机制及癌症易感性
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Clinical and laboratory findings in 8 patients with Bloom's syndrome.8例布卢姆综合征患者的临床及实验室检查结果
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The impact of Converso Jews on the genomes of modern Latin Americans.Converso 犹太人对现代拉丁美洲人基因组的影响。
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BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome.BLAP18/RMI2是一种含新型OB折叠的蛋白质，是布鲁姆解旋酶 - 双霍利迪连接解离体的重要组成部分。
Genes Dev. 2008 Oct 15;22(20):2856-68. doi: 10.1101/gad.1725108.

本文引用的文献

1
A contribution to Bloom's syndrome. Congenital telangiectatic erythema resembling lypus erythematosus in dwarfs.
Arch Dermatol. 1960 Oct;82:609-16. doi: 10.1001/archderm.1960.01580040127022.
2
Eye findings in congenital telangiectatic erythema and growth retardation (Bloom's syndrome).
Am J Ophthalmol. 1966 Oct;62(4):753-4. doi: 10.1016/0002-9394(66)92204-5.
3
The syndrome of congenital telangiectatic erythema and stunted growth.
J Pediatr. 1966 Jan;68(1):103-13. doi: 10.1016/s0022-3476(66)80426-2.
4
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.布卢姆综合征。一、首批27例患者的遗传学和临床观察。
Am J Hum Genet. 1969 Mar;21(2):196-227.
5
Founder effect in Tay-Sachs disease unlikely.泰-萨克斯病不太可能存在奠基者效应。
Am J Hum Genet. 1972 May;24(3):341-2.
6
Controversy in human genetics: founder effect in Tay-Sachs disease.人类遗传学中的争议：泰-萨克斯病的奠基者效应。
Am J Hum Genet. 1972 May;24(3):339-40.
7
Founder effect in Tay-Sachs disease.泰-萨克斯病中的奠基者效应。
Am J Hum Genet. 1973 Jan;25(1):108.
8
Tay-Sachs disease: high gene frequency in a non-Jewish population.泰-萨克斯病：在非犹太人群体中的高基因频率。
Am J Hum Genet. 1975 May;27(3):287-91.

布卢姆综合征。六、以色列的该疾病情况及对阿什肯纳兹人群中基因频率的估计。

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

作者信息

German J, Bloom D, Passarge E, Fried K, Goodman R M, Katzenellenbogen I, Laron Z, Legum C, Levin S

出版信息

Am J Hum Genet. 1977 Nov;29(6):553-62.

PMID:930922
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685519/
Abstract

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.

摘要

研究人员努力识别出1971年9月至1972年9月期间生活在以色列的所有布卢姆综合征患者。找到的8名患者均为犹太人，且很容易被归类为德系犹太人。据估计，德系犹太人中布卢姆综合征基因的频率为0.0042（最小值），这意味着杂合子频率大于1/120。性别比显著失衡（男/女 = 7.0）可能是由于受影响女性的漏查。在调查中确诊的一名患者后来死于癌症，这与该疾病公认的癌症易感性相符。4名患者已结婚，但尚无已知的受孕情况，这表明亚生育或不育是该综合征的一个特征。