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The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population

โœ Scribed by Michael A. Whitney; Petra Jakobs; Michael Kaback; Robb E. Moses; Markus Grompe

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
510 KB
Volume
3
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Communicared by Edward R. B. McCabe

Fanconi anemia (FA) is an autosomal recessive disease for which at least four complementation groups exist. Recently the gene that corrects the defect in Fanconi anemia complementation group C cells (FACC) has been cloned. We have previously identified a common mutation in the FACC gene, which accounts for a majority of FA cases in Ashkenazi Jewish individuals. We here describe the use of allele-specific oligonucleotide (ASO) hybridization to determine the frequency of this mutation among additional Jewish FA patients and to determine the carrier frequency in the Jewish population. The common 1VS4 + 4A + T allele was found on 19/23 (83%) Jewish FA chromosomes, indicating that it is indeed responsible for most cases of FA among Ashkenazi Jews. The carrier frequency was 2/3 14 for Jewish individuals and the mutant allele was not detected in 130 non-Jewish controls.

๐Ÿ“œ SIMILAR VOLUMES

Mucolipidosis type IV: Novel MCOLN1 muta
Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
โœ Ruth Bargal; Nili Avidan; Tzvia Olender; Edna Ben Asher; Marcia Zeigler; Annick ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 256 KB

The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000].