Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk

Genetika

Volumn 38, Issue 2, 2002, Pages 268-273

  Tolmacheva, E N ^a   Nazarenko, S A ^a  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN; NERVE PROTEIN; RNA BINDING PROTEIN;

ALLELE; ARTICLE; DNA POLYMORPHISM; FRAGILE X SYNDROME; FRAXA GENE; FRAXE GENE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; TRINUCLEOTIDE REPEAT; CAUCASIAN; GENETIC POLYMORPHISM; GENETICS; HETEROZYGOTE; MALE; POPULATION GENETICS; RUSSIAN FEDERATION;

EUROPEAN CONTINENTAL ANCESTRY GROUP; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; MALE; NERVE TISSUE PROTEINS; POLYMORPHISM, GENETIC; RNA-BINDING PROTEINS; SIBERIA; TRINUCLEOTIDE REPEATS;

EID: 0036480476     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Richards R.I., Sutherland G.R. Dynamic mutation: A new class of mutation causing human disease // Cell. 1992. V. 70. P. 709-712.
2. Morton N.E., Macpherson J.N. Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus // Proc. Natl Acad. Sci. USA. 1992. V. 89. P. 4215-4217.
3. Imbert G., Kretz C., Johnson K. et al. Origin of the expansion mutation in myotonic dystrophy // Nat. Genet. 1993. V. 4. No 1. P. 72-76.
4. Rubinszshein D.C., Amos W., Leggo J. et al. Mutational bias provides a model for the evolution of Huntington's desease and predicts a general increase in desease prevalence // Nat. Genet. 1994. V. 5. P. 525-531.
5. 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. V. 5. No 6. P. 727-735.
6. n alleles in the normal and premutation range by PCR amplification and automated cappilary electroforesis // Hum. Genet. 1997. V. 100. P. 564-568.
7. Kunst C.B., Zerylnick C., Karickhoff L. et al. FMR1 in global population // Am. Hum. Genet. 1996. V. 58. P. 513-522.
8. Fu Y.-H., Kuhl D.P.A., Puzzuti A. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox // Cell. 1991. V. 67. P. 1047-1058.
9. Chiang S.-C., Lee Y.-M., Wang T.-R., Hwu W.-L. Allele distribution at the FMR1 locus in the general Chinese population // Clin. Genet. 1999. V. 55. P. 352-355.
10. Zong N., Lui X., Gou S. et al. Distribution of FMR1 and associated microsattellite alleles in the normal Chinese population // Am. J. Med. Genet. 1994. V. 51. P. 417-422.
11. Crawford D.C., Schwartz C.E., Meadows K.L. et al. 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. 2000. V. 66. P. 480-493.
12. Morris A., Morton N.E., Collins A. et al. An n-alleles model for progressive amplification in the FMR1 locus // Proc. Natl Acad. Sci. USA. 1995. V. 92. P. 4833-4837.
13. Haddad L.A., Aguiar M.J.B., Costa S.S. et al. Fully mutation and gray-zone FRAXA alleles in Brasilian mentally retarded boys // Am. J. Med. Genet. 1999. V. 84. P. 198-201.
14. Kunst C.B., Warren S.T. Cryptic and polar variation of the fragile Z could result in redispotion normal alleles // Cell. 1994. V. 54. P. 853-861.
15. Eichler E.E., Holden J.A., Popovich B.W. et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene // Nat. Genet. 1994. No 8. P. 88-94.
16. Zhong N., Ju W., Pietrofesa J. et al. Fragile X "gray zone" alleles: AGG patterns, expansion risk, and associated haplotypes // Am. J. Med. Genet. 1996. V. 64. P. 261-265.
17. Knight S.J.L., Voelckel M.A., Hirst M.C. et al. Triplet repeat expansion at the FRAXE and X-linked mild Mental handicap // Am. J. Hum. Genet. 1994. V. 55. P. 81-86.
18. Zong N., Ju W., Curley D. et al. A survey of FRAXE allele size in three population // Am. J. Med. Genet. 1996. V. 65. P. 415-419.
19. Ritchie R.J., Chakrabarti L., Knight S.J.L. et al. Population genetics of the FRAXE and FRAXF GCC repeats, and a Novel CGG repeat, in Xq28 // Am. J. Med. Genet. 1997. V. 73. P. 463-469.
20. n trinucleotide repeat mutation of the fragile X syndrome to normal size range during parental transmission // Am. J. Hum. Genet. 1996. V. 59. P. 540-546.
21. Knight S.J.L., Flannery A.V. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island In FRAXE mental retardation // Cell. 1993. V. 74. P. 127-134.
22. Amos W., Sawcer S.J., Feakes R.W. et al. Microsatellites show mutational bias and heterozygote instability // Nat. Genet. 1996. V. 13. No 4. P. 390-391.
23. Weber J.L., Wong C. Mutation of human short tandem repeats // Hum. Mol. Genet. 1993. V. 2. P. 1123-1128.