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Thromb Haemost 1996; 76(03): 283-291
DOI: 10.1055/s-0038-1650573
Original Article
Schattauer GmbH Stuttgart

Ala244Val Is a Common, Probably Ancient Mutation Causing Factor VII Deficiency in Moroccan and Iranian Jews

Hannah Tamary
1   The Pediatric Hematology Oncology Center, Schneider Children’s Medical Center of Israel, Tel Hashomer, Israel
2   Pediatric Hematology Oncology Laboratory, Felsenstein Research Center, Beilinson Medical Campus, Petah Tiqva, Tel Hashomer, Israel
,
Yonit Fromovich
2   Pediatric Hematology Oncology Laboratory, Felsenstein Research Center, Beilinson Medical Campus, Petah Tiqva, Tel Hashomer, Israel
,
Lea Shalmon
2   Pediatric Hematology Oncology Laboratory, Felsenstein Research Center, Beilinson Medical Campus, Petah Tiqva, Tel Hashomer, Israel
,
Ziv Reich
3   Departments of Organic Chemistry, Tel Hashomer, Israel
,
Orly Dym
4   Structural Biology, Weizmann Institute of Science, Rehovot, Tel Hashomer, Israel
,
Naomi Lanir
5   Thrombosis and Hemostatis Unit, Rambam Medical Center, Haifa, Tel Hashomer, Israel
,
Benjamin Brenner
5   Thrombosis and Hemostatis Unit, Rambam Medical Center, Haifa, Tel Hashomer, Israel
,
Michael Paz
6   Department of Pediatrics, Ziv Hospital, Safad, Tel Hashomer, Israel
,
Anthony S Luder
6   Department of Pediatrics, Ziv Hospital, Safad, Tel Hashomer, Israel
,
Orit Blau
2   Pediatric Hematology Oncology Laboratory, Felsenstein Research Center, Beilinson Medical Campus, Petah Tiqva, Tel Hashomer, Israel
,
Michael Korostishevsky
7   Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Hashomer, Israel
,
Rina Zaizov
1   The Pediatric Hematology Oncology Center, Schneider Children’s Medical Center of Israel, Tel Hashomer, Israel
2   Pediatric Hematology Oncology Laboratory, Felsenstein Research Center, Beilinson Medical Campus, Petah Tiqva, Tel Hashomer, Israel
,
Uri Seligsohn
8   Institute of Thrombosis and Hemostasis, Department of Hematology, Chaim Sheba Medical Center, Tel Hashomer, Israel
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Publikationsverlauf

Received: 07. November 1995

Accepted after resubmission13. Mai 1996

Publikationsdatum:
10. Juli 2018 (online)

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Summary

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.

 

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