Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population

Lei Li; Christine Eng; Robert J. Desnick; James German; Nathan A. Ellis

doi:10.1006/mgme.1998.2733

Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population

Lei Li, Christine Eng, Robert J. Desnick, James German, Nathan A. Ellis

Research output: Contribution to journal › Article › peer-review

74 Scopus citations

Abstract

Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population.

Original language	English
Pages (from-to)	286-290
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	64
Issue number	4
DOIs	https://doi.org/10.1006/mgme.1998.2733
State	Published - Aug 1998

Keywords

Bloom syndrome
Carrier screening
Founder effect
Genetic testing
Jewish genetic disease

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10.1006/mgme.1998.2733

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title = "Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population",

abstract = "Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population.",

keywords = "Bloom syndrome, Carrier screening, Founder effect, Genetic testing, Jewish genetic disease",

author = "Lei Li and Christine Eng and Desnick, {Robert J.} and James German and Ellis, {Nathan A.}",

note = "Funding Information: This work was supported in part by grants from the National Institutes of Health, including Research Grants 5 R37 DK34045 and 5 RO1 DK26824 (R.J.D., C.E., and L.L.) and CA 50897 (J.L.G. and N.A.E.), a grant to Mount Sinai General Clinical Research Center from the National Center for Research Resources (2 MO1 RR0071), and a grant to the Mount Sinai Child Health Research Center (5 P30 HD28822).",

year = "1998",

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doi = "10.1006/mgme.1998.2733",

language = "English",

volume = "64",

pages = "286--290",

journal = "Molecular Genetics and Metabolism",

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AU - Li, Lei

AU - Eng, Christine

AU - Desnick, Robert J.

AU - German, James

AU - Ellis, Nathan A.

N1 - Funding Information: This work was supported in part by grants from the National Institutes of Health, including Research Grants 5 R37 DK34045 and 5 RO1 DK26824 (R.J.D., C.E., and L.L.) and CA 50897 (J.L.G. and N.A.E.), a grant to Mount Sinai General Clinical Research Center from the National Center for Research Resources (2 MO1 RR0071), and a grant to the Mount Sinai Child Health Research Center (5 P30 HD28822).

PY - 1998/8

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N2 - Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population.

AB - Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population.

KW - Bloom syndrome

KW - Carrier screening

KW - Founder effect

KW - Genetic testing

KW - Jewish genetic disease

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JO - Molecular Genetics and Metabolism

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ER -

Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population

Abstract

Keywords

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