FMR1 haplotype analyses among Indians: A weak founder effect and other findings

Human Genetics

Volumn 112, Issue 3, 2003, Pages 262-271

  Sharma, Deepti ^a   Gupta, Meena ^b   Thelma, B K ^a  

^a UNIVERSITY OF DELHI   (India)

^b INSTITUTE OF HUMAN BEHAVIOUR AND ALLIED SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA;

ALLELE; ARTICLE; ASIAN; CAUCASIAN; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; FRAGILE X MENTAL RETARDATION 1 GENE; FRAGILE X SYNDROME; GENE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PRIORITY JOURNAL; ADOLESCENT; ADULT; CHILD; FOUNDER EFFECT; GENETICS; MIDDLE AGED; MUTATION; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; FOUNDER EFFECT; FRAGILE X SYNDROME; HAPLOTYPES; HUMANS; INDIA; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0037359976     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0872-6     Document Type: Article

References (49)

1. Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H (1993) Data on the CGG repeat at the fragile site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet 92:431-436
2. Bamshad M, Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM et al. (2001) Genetic evidence on the origins of Indian caste populations. Genome Res 11:994-1004
3. Baskaran S, Naseerullah MK, Manjunatha KR, Chetan GK, Arthi R, Bhaskar Rao GV, Girimaji SR, et al. (1998) Triplet repeat polymorphism and fragile X syndrome in the Indian context. Indian J Med Res 107:29-36
4. Bonaventure G, Torrado M, Barreiro C, Chertkoff L (1998) Fragile X founder effects in Argentina. Am J Med Genet 79:200-204
5. Cavalli-Sforza LL, Menozzi P, Piazza A (1996) The History and Geography of Human Genes. Princeton University Press, Princeton, New Jersey, pp 241-242
6. Chakravarti A (1992) Fragile X founder effect? Nat Genet 1:237-238
7. Chiurazzi P, Destro-Bisol G, Genuardi M, Oostra BA, Spedini G, Neri G (1996a) Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a Sub-Saharan population. Am J Med Genet 64:216-219
8. Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, et al. (1996b) Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity. Am J Med Genet 64:209-215
9. Cleary JD, Nichol K, Wang YH, Pearson CE (2002) Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat Genet 31:37-46
10. Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, et al. (2000) Survey of the Fragile X Syndrome CGG Repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet 66:480-493
11. Eichler E, Nelson DL (1996) Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet 64:220-225
12. Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL (1996) Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet 5:319-330
13. Ennis S, Murray A, Morton NE (2001) Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect? Hum Mutat 18:61-69
14. Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, et al. (1997) Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet 60:103-112
15. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, et al. (1991) Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058
16. Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, et al. (1998) Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet 7:1935-1946
17. Haataja R, Vaisanen ML, Li M, Ryynanen M, Leisti J (1994) The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 94:479-483
18. Hagerman RJ, Silverman AC (1991) Fragile X Syndrome Diagnosis, Treatment, and Research. Johns Hopkins University Press, Baltimore
19. Hirst MC, Knight SJL, Christodoulou Z, Grewal PK, Fryns JP, Davies KE (1993) Origins of the fragile X syndrome mutation. J Med Genet 30:647-650
20. Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR (1993) Population studies of the fragile X: A molecular approach. J Med Genet 30:454-459
21. n alleles in the Danish population: Implications for multiple mutational pathways towards Fragile X alleles. Am J Med Genet 93:99-106
22. Limprasert P, Saechan V, Ruangdaraganon N, Sura T, Vasiknanote P, Jaruratanasirikul S, Brown WT (2001) Haplotype analysis at the FRAXA locus in Thai subjects. Am J Med Genet 98:224-229
23. Macpherson JN, Bullman H, Youings SA, Jacobs PA (1994) Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation. Hum Mol Genet 3:399-405
24. Mingroni-Netto RC, Costa SS, Angeli CB, Vianna-Morgante AM (1999) DXS548/FRAXAC1 haplotypes in Fragile X chromosomes in the Brazilian population. Am J Med Genet 84:204-207
25. Morris A, Morton NE, Collins A, Macpherson J, Nelson D, Sherman S (1995) An n-allele model for progressive amplification in the FMR1 locus. Proc Natl Acad Sci USA 92:4833-4837
26. Morton NE, Macpherson JN (1992) Population genetics of the fragile-X syndrome: Multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 89:4215-4217
27. Oostra BA, Jacky PB, Brown WT, Rousseau F (1993) Guidelines for the diagnosis of fragile X syndrome. J Med Genet 30:410-413
28. Oudet C, Von Koskull H, Nordstrom AM, Peippo M, Mandel JL (1993) Striking founder effect of the Fragile X syndrome in Finland. Eur J Hum Genet 1:181-189
29. Passarino A, Semino O, Bernini LF, Santachiara-Benerecetti S (1996) Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. Am H Hum Genet 59:927-934
30. Patsalis PC, Sismani C, Hettinger JA, Boumba I, Georgiou I, Stylianidou G, Anastasiadou V, et al. (1999) Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability. Am J Med Genet 84:184-190
31. Pekarik V, Balzkova M, Kozak L (1999) Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic. Am J Med Genet 84:214-216
32. Quintana-Murci L, Krausz C, Zerjal T, Sayar H, Hammer MF, Mehdi SQ, Ayub Q, et al. (2001) Y-chromosome lineages trace diffusion of people and languages in Southwestern Asia. Am J Hum Genet 68:537-542
33. Richards RI, Sutherland GR (1992) Dynamic mutation: Possible mechanisms and significance in human disease. Trends Biochem Sci 22:432-436
34. Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, et al. (1991) Fragile X syndrome: Genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 28:818-823
35. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, et al. (1992) Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260
36. Richards RI, Kondo I, Holman K, Yamauchi M, Seki N, Kishi K, Staples A, et al. (1994) Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 51:412-416
37. Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, Van Oost BA, et al. (1992) Characterization of a highly polymorphic dinucleotide repeat of 150 kb proximal to the Fragile X site. Am J Med Genet 43:237-243
38. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the Fragile X syndrome. Am J Hum Genet 57:1006-1018
39. Saha S, Karmakar P, Chatterjee C, Banerjee D, Das S, Dasgupta UB (2001) Fragile X syndrome in Calcutta, India. Ann Clin Biochem 38:264-271
40. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual, 2nd Edition. Cold Spring Harbor Laboratory Press, New York
41. Sharma D, Gupta M, Thelma BK (2001) Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol 20:129-144
42. Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G (1996) Evidence for high-risk haplotypes and (CGG)n expansion in Fragile X syndrome in the Hellenic population of Greece and Cyprus. Am J Med Genet 64:234-238
43. Timchenko LT, Caskey CT (1999) Triplet repeat disorders: Discussion of molecular mechanisms. Cell Mol Life Sci 55:1432-1447
44. Turner G, Webb T, Wake S, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64:196-197
45. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y, Kuhl DPA, Pizzuti A, Reiner O, et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
46. Zhong N, Dobkin C, Brown WT (1993) A complex mutable polymorphism located within the fragile X gene. Nat Genet 5:248-253
47. Zhong N, Yang W, Dobkin C, Brown WT (1995) Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361
48. Zhong N, Kajanoja E, Smits B, Pietrofesa J, Curley D, Wang D, Ju W, et al. (1996) Fragile X founder effects and new mutations in Finland. Am J Med Genet 64:226-233
49. Zhong N, Ju W, Xu W, Ye L, Shen Y, Wu G, Chen S, et al. (1999) Frequency of the fragile X syndrome in Chinese mentally retarded population is similar to that in Caucasians. Am J Med Genet 84:191-194