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

Human Genetics

Volumn 97, Issue 3, 1996, Pages 304-308

  Rafi, Mohammad A ^a   Luzi, Paola ^a   Zlotogora, Joel ^b   Wenger, David A ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; COMPLEMENTARY DNA; ISOLEUCINE; RESTRICTION ENDONUCLEASE; SERINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBREEDING; ISRAEL; LETHAL MUTANT; MOSLEM; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; START CODON;

BASE SEQUENCE; ETHNIC GROUPS; HUMANS; ISRAEL; LEUKODYSTROPHY, GLOBOID CELL; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION;

EID: 0030058576     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185759     Document Type: Article

References (16)

1. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53:330-338
2. Casanova J-L, Pannetier CP, Jaulin C, Kourilsky P (1990) Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res 18:4028
3. Chen YQ, Wenger DA (1993) Galactocerebrosidase from human urine: purification and partial characterization. Biochim Biophys Acta 1170:53-61
4. Chen YQ, Rafi MA, deGala G, Wenger DA (1993) Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2: 1841-1845
5. Chomezynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159
6. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78: 151-155
7. Heinisch U, Zlotogora J, Kafert S, Gieselmann V (1995) Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 55:51-57
8. Luzi P, Rafi MA, Wenger DA (1995) Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26: 407-409
9. Rafi MA, Luzi P, Chen YQ, Wenger DA (1995) A large deletion with a point mutation in the GALC gene is a common mutation in patients with infantile Krabbe disease. Hum Mol Genet 4: 1285-1289
10. Sanger F, Nickelson J, Coulson AR (1977) DNA sequencing with chain termination. Proc Natl Acad Sci USA 74:5463-5467
11. Suzuki K, Suzuki Y (1970) Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebrosidase β-galactosidase. Proc Natl Acad Sci USA 66:302-309
12. Wenger DA, Chen YQ (1993) Krabbe disease (globoid cell leukodystrophy) In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM (eds) The molecular and genetic basis of neurological disease. Butterworth-Heinemann, Boston, pp 485-495
13. Wenger DA, Williams C (1991) Screening for lysosomal disorders. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics. Wiley-Liss, New York, pp 587-617
14. Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G (1985) Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet 27:765-770
15. Zlotogora J, Chakraborty S, Knowlton RG, Wenger DA (1990) Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am J Hum Genet 47:37-44
16. Zlotogora J, Levy-Lahad E, Legum C, Iancu TC, Zeigler M, Bach G (1991) Krabbe disease in Israel. Isr J Med Sci 27:196-198