Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

American Journal of Human Genetics

Volumn 59, Issue 3, 1996, Pages 620-624

  Fukai, Kazuyoshi ^a   Oh, Jangsuk ^a   Karim, Mohammad A ^a   Moore, Karen J ^c   Kandil, Hesham H ^d   Ito, Hiroshi ^e   Bürger, Joachim ^f   Spritz, Richard A ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c MILLENNIUM PHARMACEUTICALS INC   (United States)

^d AL JAHRA HOSPITAL   (Kuwait)

^e KOBE UNIVERSITY   (Japan)

^f HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL ULTRASTRUCTURE; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 13; CHROMOSOME 1Q; CHROMOSOME MAP; GENE MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPIGMENTATION; IMMUNE DEFICIENCY; NATURAL KILLER CELL; NEUTROPENIA; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

ADULT; ANIMALS; CHEDIAK-HIGASHI SYNDROME; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; FEMALE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MICE; PEDIGREE; PROTEINS; VESICULAR TRANSPORT PROTEINS;

EID: 0029781458     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Argyle JC, Kjeldsberg CR, Marty J, Shigeoka AO, Hill HR (1982) T-cell lymphoma and the Chediak-Higashi syndrome. Blood 60:672-676
2. Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG (1992) A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics 13:1314-1315
3. Beguez-Cesar AB (1943) Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 15:900-922
4. Bennett D (1991) Color genes, oncogenes and melanocyte differentiation. J Cell Sci 98:135-139
5. Bray-Ward P, Menninger J, Lieman J, Desai T, Mokady N, Banks A, Ward DC (1996) Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones. Genomics 32:1-14
6. Taylor RF, Farrell RK (1973) Light and electron microscopy of peripheral blood neutrophils in a killer whale affected with Chediak-Higashi syndrome. Fed Proc 32:822a
7. White JG (1966) The Chediak-Higashi syndrome: a possible lysosomal disease. Blood 28:143-156
8. Windhorst DB, Padgett B (1973) The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 60:529-537
9. Windhorst DB, Zelickson AS, Good RA (1966) Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 151:81-83
10. Zelickson AS, Windhorst DB, White JG, Good RA (1967) The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 49:575-581