Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.

American journal of human genetics - 1 Apr 2003

Risch Neil, Tang Hua, Katzenstein Howard, Ekstein Josef

Abstract excerpt

The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the driving force. We compare LSDs and nonlysosomal storage diseases (NLSDs) in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations. We also provide new data on the...

Topics

Europe
Genes, Recessive
Genetic Diseases, Inborn
Genetic Drift
Geography
Humans
Israel
Jews
Lysosomal Storage Diseases
Models, Genetic
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

New York

United States

Source

Open in PubMed Open full text

Identifiers

PMID: 12612865
DOI: 10.1086/373882
PMCID: PMC1180346

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.PMID 12612865Read ↗

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations.Semantic proximity Read ↗

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.Semantic proximity Read ↗

The population genetics of the Jewish people.Semantic proximity Read ↗

The Jewish people: their ethnic history, genetic disorders and specific cancer susceptibility.Semantic proximity Read ↗

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews.Semantic proximity Read ↗

The time and place of European admixture in Ashkenazi Jewish history.Semantic proximity Read ↗

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.Semantic proximity Read ↗

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.Semantic proximity Read ↗

Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.Semantic proximity Read ↗

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.Semantic proximity Read ↗

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.Semantic proximity Read ↗

Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.