TY - JOUR
T1 - Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews
AU - Tamary, Hannah
AU - Fromovich, Yonit
AU - Shalmon, Lea
AU - Reich, Ziv
AU - Dym, Orly
AU - Lanir, Naomi
AU - Brenner, Benjamin
AU - Paz, Michael
AU - Luder, Anthony S.
AU - Blau, Orit
AU - Korostishevsky, Michael
AU - Zaizov, Rina
AU - Seligsohn, Uri
PY - 1996
Y1 - 1996
N2 - We investigated the molecular basis for factor VII (FVII) deficiency in Israel and found that 13 patients were homozygous and 10 heterozygous for a C to T substitution at nucleotide 10648 of the FVII gene. This predicted an Ala244Val change and was associated with decreased FVII activity and antigen level. Of the 36 Ala244Val positive alleles, 20 were observed in patients of Moroccan origin, 10 in Iranian-Jewish patients and 6 in patients of other origins. A computer model of the serine protease domain of FVII suggested that the Ala244Val substitution may cause distortion of the entire protein structure. Intragenic polymorphic sites analyses disclosed a founder effect for the Moroccan and Iranian-Jewish patients. A survey of the Ala244Val mutation revealed an allele frequency of 1:42.5 in Moroccan Jews and 1:40 in Iranian Jews. As Moroccan Jews have been separated from Iranian Jews for more than two millennia, the data suggest that the Ala244Val mutation occurred in ancient times.
AB - We investigated the molecular basis for factor VII (FVII) deficiency in Israel and found that 13 patients were homozygous and 10 heterozygous for a C to T substitution at nucleotide 10648 of the FVII gene. This predicted an Ala244Val change and was associated with decreased FVII activity and antigen level. Of the 36 Ala244Val positive alleles, 20 were observed in patients of Moroccan origin, 10 in Iranian-Jewish patients and 6 in patients of other origins. A computer model of the serine protease domain of FVII suggested that the Ala244Val substitution may cause distortion of the entire protein structure. Intragenic polymorphic sites analyses disclosed a founder effect for the Moroccan and Iranian-Jewish patients. A survey of the Ala244Val mutation revealed an allele frequency of 1:42.5 in Moroccan Jews and 1:40 in Iranian Jews. As Moroccan Jews have been separated from Iranian Jews for more than two millennia, the data suggest that the Ala244Val mutation occurred in ancient times.
UR - http://www.scopus.com/inward/record.url?scp=10344265065&partnerID=8YFLogxK
U2 - 10.1055/s-0038-1650573
DO - 10.1055/s-0038-1650573
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AN - SCOPUS:10344265065
SN - 0340-6245
VL - 76
SP - 283
EP - 291
JO - Thrombosis and Haemostasis
JF - Thrombosis and Haemostasis
IS - 3
ER -