Analysis of FMR1 (CGG)(n) alleles and FRAXA microsatellite haplotypes in the population of Greenland: Implications for the population of the New World from Asia

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 771-777

  Larsen, Lars Allan ^a   Armstrong, Judith S M ^b   Grønskov, Karen ^b   Hjalgrim, Helle ^b   Brøndum Nielsen, Karen ^b   Hasholt, Lis ^c   Nørgaard Pedersen, Bent ^a   Vuust, Jens ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

(CGG)(n); Eskimo; FMR1 gene; Fragile X syndrome; FRAXA; PCR; Trinculeotide repeats

Indexed keywords

MICROSATELLITE DNA; REPETITIVE DNA;

ALLELE; ARTICLE; ASIA; DNA SEQUENCE; ESKIMO; FRAGILE X SYNDROME; GENETIC POLYMORPHISM; GENETIC STABILITY; GREENLAND; HAPLOTYPE; HUMAN; MIGRATION; POPULATION GENETICS; PRIORITY JOURNAL; PROMOTER REGION;

ALLELES; ASIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; GENETICS, POPULATION; GREENLAND; HAPLOTYPES; HUMANS; INFANT, NEWBORN; INUITS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; TRINUCLEOTIDE REPEATS;

EID: 0032700891     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200374     Document Type: Article

References (34)

1. Murray A, Youings S, Dennis N et al: Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996; 5: 727-735.
2. Turner G, Webb T, Wake S, Robinson H: Prevalence of fragile X syndrome. Am J Med Genet 1996; 64: 196-197.
3. Oberle I, Rousseau F, Heitz D et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-1102.
4. Pieretti M, Zhang FP, Fu YH et al: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991; 66: 817-822.
5. Verkerk AJ, Pieretti M, Sutcliffe JS et al: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-914.
6. Fu YH, Kuhl DP, Pizzuti A et al: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-1058.
7. Chiurazzi P, Macpherson J, Sherman S, Neri G: Significance of linkage disequilibrium between the fragile X locus and its flanking markers. Am J Med Genet 1996; 64: 203-208.
8. Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994; 77: 853-861.
9. Kunst CB, Leeflang EP, Iber JC, Arnheim N, Warren ST: The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J Med Genet 1997; 34: 627-631.
10. Murray A, Macpherson JN, Pound MC et al: The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. Hum Mol Genet 1997; 6: 173-184.
11. Nolin SL, Lewis FA 3rd, Ye LL et al: Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 1996; 59: 1252-1261.
12. Eichler EE, Holden JJ, Popovich BW et al: Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994; 8: 88-94.
13. Eichler EE, Nelson DL: Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet 1996; 64: 220-225.
14. Kunst CB, Zerylnick C, Karickhoff L et al: FMR1 in global populations. Am J Hum Genet 1996; 58: 513-522.
15. Cavalli-Sforza LL, Piazza A, Menozzi P: History and Geography of Human Genes. Princeton University Press: Princeton, 1994.
16. Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J: High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum Genet 1997; 100: 564-568.
17. Richards RI, Holman K, Kozman H et al: Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 1991; 28: 818-823.
18. Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K: Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Am J Hum Genet 1997; 61: 961-967.
19. Biancalana V, Taine L, Bouix JC et al: Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet 1996; 59: 847-854.
20. Chen SH, Schoof JM, Buroker NE, Scott CR: The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians. Hum Genet 1997; 99: 793-795.
21. Richards RI, Kondo I, Holman K et al: Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 1994; 51: 412-416.
22. Zhong N, Liu X, Gou S et al: Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population. Am J Med Genet 1994; 51: 417-422.
23. Hirst MC, Arinami T, Laird CD: Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)n tracts. Hum Genet 1997; 101: 214-218.
24. Grønskov K, Hallberg A, Brøndum-Nielsen K: Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Hum Genet 1998; 102: 440-445.
25. Persson I: Anthrolopical investigations of the population of Greenland. Meddr Groenland 1970; 180: 1-78.
26. Gerdes LU, Gerdes C, Hansen PS, Klausen IC, Faergeman O, Dyerberg J: The apolipoprotein E polymorphism in Greenland Inuit in its global perspective. Hum Genet 1996; 98: 546-550.
27. Harvald B: Genetic epidemiology of Greenland. Clin Genet 1989; 36: 364-367.
28. Greenberg JH, Turner CG, Zegura SL: The settlement of the Americas: A comparison of the linguistic, dental and genetic evidence. Curr Anthropol 1986; 27: 477-498.
29. Wallace DC, Torroni A: American Indian prehistory as written in the mitochondrial DNA: a review. Hum Biol 1992; 64: 403-416.
30. Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H: Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet 1993; 92: 431-436.
31. Arinami T, Kondo I, Nakajima S: Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet 1986; 73: 309-312.
32. Vianna Morgante AM, Costa SS, Pares AS, Verreschi IT: FRAXA premutation associated with premature ovarian failure. Am J Med Genet 1996; 64: 373-375.
33. Schwartz CE, Dean J, Howard Peebles PN et al: Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet 1994; 51: 400-402.
34. Macpherson JN, Bullman H, Youings SA, Jacobs PA: Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. Hum Mol Genet 1994; 3: 399-405.