ArticleAmerican journal of human genetics1998
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 70 citations in OpenAlex.
- Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.American journal of medical genetics. Part A · 2025Article
- Bloom Syndrome Complicated by Low-Grade Lymphoma and Non-small Cell Lung Cancer: A Case Report.Cureus · 2024Article
- Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.Frontiers in genetics · 2023Article
- Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.American journal of medical genetics. Part A · 2021Article
- Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.Cold Spring Harbor molecular case studies · 2021Article
- Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?Frontiers in genetics · 2021Review
- Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.Molecular genetics & genomic medicine · 2020Article
- Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.Molecular syndromology · 2017Review
- Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.Molecular genetics & genomic medicine · 2016Article
- Signs and genetics of rare cancer syndromes with gastroenterological features.World journal of gastroenterology · 2015Review
- Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.PLoS genetics · 2012Article
- The impact of Converso Jews on the genomes of modern Latin Americans.Human genetics · 2012Article
- Article
- History shaped the geographic distribution of genomic admixture on the island of Puerto Rico.PloS one · 2011Article
- Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.Journal of medical case reports · 2011Article
- Human pyruvate kinase M2: a multifunctional protein.Protein science : a publication of the Protein Society · 2010Review
- RecQ helicases: multifunctional genome caretakers.Nature reviews. Cancer · 2009Review
- A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.American journal of human genetics · 2004Article
- Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.American journal of human genetics · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador. These data, along with haplotype analyses, show that blmAsh was independently established through a founder effect in Ashkenazic Jews and in immigrants to formerly Spanish colonies. This striking observation underscores the complexity of Jewish history and demonstrates the importance of migration and genetic drift in the formation of human populations.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.