Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism

Human Heredity

Volumn 47, Issue 5, 1997, Pages 263-267

  Beckman, L E ^a   Saha, N ^b   Spitsyn, V ^c   Van Landeghem, G ^a   Beckman, L ^a  

^a UMEÅ UNIVERSITY   (Sweden)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

Ethnic differences; Hereditary hemochromatosis; HFE polymorphism

Indexed keywords

CYSTEINE; HLA A ANTIGEN; TYROSINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CODON; ETHNIC DIFFERENCE; GENETIC POLYMORPHISM; HEMOCHROMATOSIS; HUMAN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TELOMERE;

EID: 0030817528     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154422     Document Type: Article

References (22)

1. Kanner L: Autistic disturbances of affective contact. Nervous Child 1943;2:217-250.
2. Smalley SL, Asarnow RL, Spence MA: Autism and genetics: A decade of research. Arch Gen Psychiatry 1988:45:958-961.
3. Rutter M, Bailey A, Bolton P, Le Couteur A: Autism and known medical conditions: Myth and substance. J Child Psychol Psychiatry 1994:35:311-322.
4. Bolton P. Rutter M: Genetic influences in autism. Int Rev Psychiatry 1990:2:67-80.
5. Bailey A, Bolton P, Butler L, Le Couteur A, Murphy M, Scott S, Webb T, Rutter M: Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiatry 1993:34:673-688.
6. Piven J, Gayle BS, Landa R, Wzorek M, Folstein S: The prevalence of fragile X in a sample of autistic individuals diagnosed using a standardized interview. J Am Acad Child Adolesc Psychiatry 1991:3:825-830.
7. Bolton P, Pickles A, Butler L, Summers D, Webb T. Lord C, Le Couteur A, Bailey A, Rutter M: Fragile X in families multiplex for autism and related phenotypes: Prevalence and criteria for cytogenetic diagnosis. Psychiatr Genet 1992;2:277-300.
8. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonot T E, Yuzda E, Rutter M: Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 1995: 25:63-77.
9. Bolton P, Maedonald H, Pickles A, Rios P, Goode S,. Crowson M, Bailey A, Rutter M: A case-control family history study of autism. J Child Psychol Psychiatry 1994:35:877-900.
10. Le Couteur A, Rutter M, Lord C, Rios P, Robertson S, Holdgrafer M, McLennan J: Autism Diagnostic Interview: A standardized investigator based instrument. J Autism Dev Disord 1989;19:363-387.
11. Sambrock J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, ed 2. Cold Spring Harbor. Cold Spring Harbor Laboratory Press, 1989.
12. Birnboim HC, Doly J: A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res 1979;7:1513-1523.
13. Feinberg AP, Vogelslcin B: A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity (addendum). Anal Biochem 1984:137:266-267.
14. Nakahori Y, Knight SJL, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint TJ, Frostcr-Iskenius U, Bentley D, Davies KE, Hirst MC: Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res 1991:19:1355-1359.
15. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgcnkrantz S, Jalbert P, Voelckel MA, Oberle I, Mandel JL: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991: 325:1673-1681.
16. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG Jr., Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X locus results in genetic instability: Resolution of the Sherman paradox. Cell 1991:67:1047-1050.
17. Kniglu SJL, Flcnncry AV, Hirst MC, Campbell L, Christodolou Z, Phelps SR, Pointon J, Middleton-Price IJR, Bamicoat A, Pembrey M, Holland J, Oostra BA, Bobrow M, Davies KE: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993:74:127-134.
18. de Graaf E, Rouillard P, Willems PJ, Smits APT, Rousseau F, Oostra BA: Hotspot for deletions in the CGG repeat region of fmr-1 in fragile X patients. Hum Mol Genet 1995:199:45-49.
19. Holden JJA, Wing M, C’halifoux M, Julmn-Inalsingh C, Schutz C, Robin P, Szatmari P, White BN: Lack of expansion of triplet repeats in the FMR-1. FRAXE and FRAXF loci in male multiplex families with autism and pervasive developmental disorders. Am J Med Genet 1996;64:399-403.
20. Hallmayer J, Pintado E, Lin A, Hebert J, Lotspeich L, Spiker D, McMahon WM, Petersen PB. Nicholas P, Pingree C, Kraemer HC, Wong D, Ritvo ER, Cavalli-Sforza LL, Ciaranello RD: Molecular analysis and test for linkage between the FMR-1 gene and infantile autism in multiplex families. Am J Hum Genet 1994:55:951-959.
21. Hallmayer J, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicholas P, Pingree C, Ciaranello RD: Male-to-male transmission in extended pedigrees with multiple cases of autism. Am J Med Genet 1996; 67:13-18.
22. Vincent JB, Konecki DS, Mustermann E, Bolton P, Poutska A, Poutska F, Gurling HMD: Point mutation analysis of the FMR-1 gene in autism. Mol Psychiatry 1996:1:227-231.