Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease

Prenatal Diagnosis

Volumn 22, Issue 9, 2002, Pages 763-768

  Li, Lanying ^a   Zhou, Yungui ^a   Wang, Junhua ^a   Hu, Diana ^b   Cowan, Morton J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Tuba City Indian Health Services   (United States)

Author keywords

Athabascan SCID; Carrier detection; Prenatal diagnosis

Indexed keywords

ADULT; AMERICAN INDIAN; AMNIOCENTESIS; ARTICLE; CHROMOSOME 10P; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; DNA DETERMINATION; DNA POLYMORPHISM; EXON; FEMALE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INCIDENCE; LYMPHOCYTE COUNT; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADULT; BETA-LACTAMASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; INDIANS, NORTH AMERICAN; LINKAGE (GENETICS); NUCLEAR PROTEINS; PEDIGREE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0036735108     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.400     Document Type: Article

References (11)

1. Dib C, Faure S, Fizames C, et al. 1996. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380: 152-154.
2. Ford N, Nolan M, Ferguson M, Ockler M. 1989. Isolation of high-molecular-weight DNA from mammalian cells. In Molecular Cloning: a Laboratory Manual, 2nd edn, Sambrook J, Fritsch EF, Maniatis T (eds). Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY; 9.16-9.23.
3. Hudson TJ, Stein LD, Gerety SS, et al. 1995. An STS-based map of the human genome. Science 270: 1945-1954.
4. Jones J, Ritenbaugh C, Spence A, Hayward A. 1991. Severe combined immunodeficiency among the Navajo. Characterization of phenotypes, epidemiology and population genetics. Hum Biol 63: 669-682.
5. Kwong PC, O'Marcaigh A, Howard R, Cowan MJ, Frieden IJ. 1999. Noma: a unique presentation of immunodeficiency in Athabascan-speaking Native American children with severe combined immune deficiency. Archives of Dermatology 135: 927-931.
6. Li L, Drayna D, Hu D, et al. 1998. The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on Chromosome 10p. Am J Hum Genet 62: 136-144.
7. Li L, Moshous D, Zhou Y, et al. A founder mutation in Artemis, an SNM1-like protein causes Severe Combined Immunodeficiency Disease in Athabascan-speaking Native Americans. J Immunol (in press).
8. Moushous D, Callebaut I, de Chasseval R, et al. 2001. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186.
9. Murphy S, Hayward A, Troup G, Devor E, Coon T. 1980. Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease. Lancet ii: 502-505.
10. - severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transpl 27: 703-709.
11. Rotbart HA, Levin MJ, Jones JF, et al. 1986. Noma in children with severe combined immunodeficiency J Pediatr 109: 596-599.