The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel

Journal Article · Mon Apr 15 00:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.8.3160· OSTI ID:6056073

Newman, P J ^[1]; Seligsohn, U ^[2]; Lyman, S ^[3]; Coller, B S ^[4]

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1. Blood Center of Southeastern Wisconsin, Milwaukee (United States) Medical Coll. of Wisconsin, Milwaukee (United States)
2. Tel-Aviv Sourasky Medical Center (Israel)
3. Blood Center of Southeastern Wisconsin, Milwaukee (United States)
4. State Univ. of New York, Stony Brook (United States)

Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a decrease or absence of functional platelet glycoprotein (GP) IIb-IIIa ({alpha}{sub IIb}{beta}{sub 3}) integrin receptors. Although thrombasthenia is a rare disorder, its occurrence is increased in some regions of the world where intracommunity marriage and consanguinity are commonplace, resulting in increased expression of autosomal recessive traits. The authors have been studying two populations having an unusually high frequency of Glanzmann disease, Iraqi Jews and Arabs living in Israel, and were able to distinguish the populations on the basis of immunodetectable GPIIIa and populations on the basis of immunodetectable GPIIIa and platelet surface vitronectin receptor ({alpha}{sub v}{beta}{sub 3}) expression. In this article, they describe molecular genetic studies based on use of the PCR that have allowed us to characterize platelet mRNA sequences encoding GPIIb and GPIIIa from patients in these populations. These studies demonstrate the heterogeneity of Glanzmann thrombasthenia in different populations, and its homogeneity within geographically restricted populations, and offer insight into the requirements for integrin surface expression.

• OSTI ID: 6056073
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 88:8; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENES
DNA SEQUENCING
HEREDITARY DISEASES
ETIOLOGY
MESSENGER-RNA
MOLECULAR STRUCTURE
BLOOD COAGULATION
BLOOD PLATELETS
CONGENITAL DISEASES
GLYCOPROTEINS
HUMAN POPULATIONS
ISRAEL
MOLECULAR BIOLOGY
PATIENTS
RECEPTORS
RECESSIVE MUTATIONS
ASIA
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
DEVELOPING COUNTRIES
DISEASES
MATERIALS
MEMBRANE PROTEINS
MIDDLE EAST
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
RNA
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics