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Human Genetics

, Volume 97, Issue 3, pp 304–308 | Cite as

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

  • Mohammad A. Rafi
  • Paola Luzi
  • Joel Zlotogora
  • David A. Wenger
Original Investigation

Abstract

Infantile Krabbe disease is a severe, fatal autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. It is relatively common in two separate inbred communities in Israel. In the Druze community in Northern Israel and two Moslem Arab villages located near Jerusalem the incidence of Krabbe disease is about 1 in 100–150 live births. With our cloning of the GALC gene, mutation analysis of these populations was undertaken. The Moslem Arabs were homozygous for two mutations in the GALC gene; a T-to-C transition at cDNA position 1637 (counting from the A of the initiation codon), which is considered a polymorphism, and a G-to-A transition at position 1582, which changes the codon for aspartic acid to one for asparagine. The Druze patients are homozygous for a T-to-G transversion at position 1748, which changes the codon for isoleucine to one for serine. Expression studies confirmed the deleterious nature of these mutations. The development of a simple polymerase chain reaction (PCR) amplification and restriction enzyme digestion method to identify these alleles will lead to accurate carrier testing and improved genetic counseling for interested individuals in these communities.

Keywords

Codon Genetic Counseling Aspartic Acid Autosomal Recessive Disorder Arab Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Mohammad A. Rafi
    • 1
  • Paola Luzi
    • 1
  • Joel Zlotogora
    • 2
  • David A. Wenger
    • 1
  1. 1.Departments of Medicine (Medical Genetics) and Biochemistry & Molecular BiologyJefferson Medical CollegePhiladelphiaUSA
  2. 2.Department of Human GeneticsHadassah Medical CenterJerusalemIsrael

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