Possible founder effects for FRAXE alleles

American Journal of Medical Genetics

Volumn 84, Issue 3, 1999, Pages 286-290

  Limprasert, Pornprot ^a,b   Zhong, Nan ^a   Currie, Julia R ^a   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b PRINCE OF SONGKLA UNIVERSITY   (Thailand)

Author keywords

Founder effect; FRAXE; Microsatellites; Triplet repeats

Indexed keywords

MICROSATELLITE DNA;

ALLELE; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME ANALYSIS; CORRELATION FUNCTION; FOUNDER EFFECT; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; X CHROMOSOME DOMINANT INHERITANCE;

ALLELES; FOUNDER EFFECT; FRAGILE X SYNDROME; HAPLOTYPES; TRINUCLEOTIDE REPEATS;

EID: 0033612130     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990528)84:3<286::AID-AJMG24>3.0.CO;2-S     Document Type: Article

References (33)

1. Amos W, Sawer SJ, Feakes RW, Rubinaztein DC. 1996. Microsatellites show mutational bias and heterozygote instability. Nat Genet 13:390-391.
2. Brown WT. 1996. The FRAXE syndrome: is it time for routine screening? Am J Hum Genet 58:903-905.
3. Brown WT, Zhong N, Dobkin C. 1996a. Positive fragile X microsatellites associations point to a common mechanism of dynamic mutation evolution. Am J Hum Genet 58:641-643.
4. Brown WT, Houck GE Jr, Ding X, Zhong N, Nolin S, Glicksman A, Dobkin C, Jenkins EC. 1996b. Reverse mutations in fragile X syndrome. Am J Med Genet 64:287-292.
5. Carbonell P, López I, Gabarrón J, Bernabé MJ, Lucas JM, Guitart M, Gabau E, Glover G. 1996. Mutation analysis in three Spanish families. Am J Med Genet 64:434-440.
6. Chakrabarti L, Knight SJL, Flannery AV, Davies KE. 1996. A candidate gene for mild mental handicap at the FRAXE fragile site. Hum Mol Genet 5:275-282.
7. Chiurazzi P, Macpherson J, Sherman S, Neri G. 1996. Significance of linkage disequilibrium between the fragile X locus and its flanking markers. Am J Med Genet 64:203-208.
8. Gecz J, Gedeon AK, Sutherland GR, Mulley JC. 1996. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 13:105-108.
9. Gu Y, Shen Y, Gibbs RA, Nelson DL. 1996. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13:109-113.
10. Haataja R, Väisänen ML, Li M, Ryynänen 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.
11. Hamel BCJ, Smits APT, de Graaff E, Smeets DFCM, Schoute F, Eussen BHJ, Knight SJL, Davis KE, Assman-Hulmans CFCH, Oostra BA. 1994. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet 55:923-931.
12. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davis KE. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
13. Knight SJL, Voelckel MA, Hirst MC, Flannery AV, Moncla A, Davies KE. 1994. Triplet repeat expansion at the FRAXE locus and X linked mild metal handicap. Am J Hum Genet 55:81-86.
14. Mahtani MM, Willard HF. 1993. A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci. Hum Mol Genet 2:431-437.
15. Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, Lopez I, Glover G, Gabarron I, Yu PWL, Baker E, Haan EA, Hockey A, Knight SJL, Davies KE, Richards RI, Sutherland GR. 1995. FRAXE and mental retardation. J Med Genet 32:162-169.
16. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macherson J, Pound M, Jacobs P. 1996. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with difficulties and their mothers. Hum Mol Genet 5:727-735.
17. Murgia A, Polli R, Vinanzi C, Salis M, Drigo P, Artifoni L, Zacchello F. 1996. Amplification of Xq28 FRAXE repeats: extreme phenotype variability? Am J Med Genet 64:441-444.
18. Nolin SL, Lewis FA III, Ye LL, Houck GE Jr, Glicksman AE, Limprasert P, Li YL, Zhong N, Ashley AE, Feingold E, Sherman SL, Brown WT. 1996. Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59:1252-1261.
19. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. 1991. Instability of a 550 base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252: 1097-1102.
20. Ott J. 1991. Analysis of human genetic linkage. Revised ed. Baltimore: Johns Hopkins University Press.
21. Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, Tejada I, Boué J, Boué A, Mandel JL. 1993. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 52:297-304.
22. Primmer CR, Ellegren H, Saino N, Moller AP. 1996. Directional evolution in germline microsatellite mutations. Nat Genet 13:391-393.
23. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, Sutherland GR. 1992. Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260.
24. Richards RI, Kondo I, Holman K, Yamauchi M, Seki N, Kishi K, Staples A, Sutherland GR. 1994. Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 51:412-416.
25. Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatas 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.
26. Talbot CC, Avramopoulos D, Gerken S, Chakravarti A, Armour JA, Matsunami N, White R, Antonarakis SE. 1995. The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet 4:1193-1199.
27. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kohl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a fragile X breakpoint cluster region which exhibits length variation in fragile X syndrome. Cell 65:905-914.
28. Weber JL, Wong C. 1993. Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128.
29. Yu S, Pritchard M, Kremmer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland GR, Richard RI. 1991. Fragile X genotype characterized by unstable region of DNA. Science 252:1179-1181.
30. Zhong N, Dobkin C, Brown WT. 1993. A complex mutable polymorphism located within the fragile X gene. Nat Genet 5:248-253.
31. Zhong N, Ye L, Dobkin C, Brown WT. 1994. Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterozygosity? Am J Med Genet 51:405-411.
32. Zhong N, Yang W, Dobkin C, Brown WT. 1995. Fragile X gene instability: anchoring AGGs and liked microsatellites. Am J Hum Genet 57:351-361.
33. Zhong N, Ju W, Curley D, Wang D, Pietrofesa J, Wu G, Shen Y, Pang C, Poon P, Liu X Gou S, Kajanoaj E, Ryynänen M, Dobkin C, Brown WT. 1996. A survey of FRAXE allele sizes in three populations. Am J Med Genet 64:415-419.