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Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia
gene FAC in the Ashkenazi Jewish population
PC Verlander, A Kaporis, Q Liu, Q Zhang, U Seligsohn and AD Auerbach
Laboratory of Human Genetics and Hematology, Rockefeller University, New
York, NY 10021-6399, USA.
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous
autosomal recessive disorder defined by a cellular hypersensitivity to DNA
cross-linking agents. One of the FA genes, FAC, has been cloned and the
genomic structure of the coding region has been characterized. We have
developed amplification refractory mutation system (ARMS) assays for five
known mutations in FAC, and have applied these assays to determine the
carrier frequency of the IVS4 + 4 A-->T (IVS4) mutation in an Ashkenazi
Jewish population. We tested 3,104 Jewish individuals, primarily of
Ashkenazi descent, for the two most common FAC mutations, IVS4 and 322delG.
Thirty-five IVS4 carriers were identified, for a carrier frequency of 1 in
89 (1.1%; 95% confidence interval 0.79% to 1.56%); no 322delG carriers were
found. To determine if the IVS4 mutation was confined to the Ashkenazi
Jewish population, we tested 563 Iraqi Jews for IVS4, and no carriers were
found. Because the IVS4 mutation has only been found on chromosomes of
Ashkenazi Jewish origin and is the only FAC mutation found on these
chromosomes, we suggest that a founder effect is responsible for the high
frequency of this mutation. With a carrier frequency greater than 1% and
simple testing available, the IVS4 mutation merits inclusion in the battery
of tests routinely provided to the Jewish population.
Volume 86,
Issue 11,
pp. 4034-4038,
12/01/1995
Copyright © 1995 by The American Society of Hematology
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