Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: An update with AGG interspersion analysis

American Journal of Medical Genetics

Volumn 75, Issue 1, 1998, Pages 28-34

  Mogk, R L ^a   Carson, N L ^a   Chudley, A E ^a   Dawson, A J ^a,b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Cytogenetics Laboratory   (Canada)

Author keywords

AGG interspersion; FRAXA; MnlI digestion; Nonpenetrant males; Stability; Triplet repeats

Indexed keywords

REPETITIVE DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC STABILITY; HUMAN; INHERITANCE; MALE; MENTAL DEFICIENCY; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENOSINE; ALLELES; BASE COMPOSITION; BASE SEQUENCE; CHROMOSOME FRAGILITY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FRAGILE X SYNDROME; GENETIC MARKERS; GUANOSINE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRINUCLEOTIDE REPEATS;

RAPHIA FRATER;

EID: 0031964739     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<28::AID-AJMG7>3.0.CO;2-M     Document Type: Article

References (20)

1. Abramowicz MJ, Parma J, Cochaux P (1996): Slight instability of a FMR-1 allele over three generations in a family from the general population. Am J Med Genet 64:268-269.
2. Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, Jacobs PA, Tommerup N, Tranebjaerg L, Froster-Iskenius U, Kerr B, Turner G, Lindenbaum RH, Winter R, Pembry M, Thibodeau S, Davies KE (1991): Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell 64:861-866.
3. Brown WT, Houck GE, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC (1993): Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575.
4. Chudley AE, Hagerman RJ (1987): Fragile X syndrome. J Pediatr 110:821-831.
5. Eichler EE, 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.
6. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994): Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8: 88-94.
7. Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE (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 60:130-112.
8. Fu Y-H, Kuhl DPA, Pizutti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the fragile site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
9. Hirst MC, Grewal PK, Davies KE (1994): Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet 3:1553-1560.
10. Kirkilionis AJ, Chudley AE, Greenberg CR, Yan DL, McGillvary B, Hamerton JL (1992): Transmission of the Fra(X) haplotype from three nonpenetrant brothers to their affected grandsons. Am J Med Genet 43: 588-591.
11. Kunst CB, Warren ST (1994): Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861.
12. Murray A, Macpherson JN, Pound MC, Sharrock A, Youings SA, Dennis NR, McKechnie N, Linehan P, Morton NE, Jacobs PA (1997): The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. Hum Mol Genet 6:173-184.
13. Nolin SL, Lewis FA, Ye LL, Houck GE, Glicksman AE, Limprasert P, Li SY, 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.
14. 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.
15. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizutti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JI, 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 breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914.
16. Vincent A, Heitz D, Petit C, Kretz C, Oberlé I, Mandel JL (1991): Abnormal pattern detected in fragile X patients by pulsed-field gel electrophoresis. Nature 349:624-626.
17. Warren ST, Nelson DL (1994): Advances in molecular analysis of fragile X syndrome. JAMA 271:536-542.
18. Westneat DF, Noon WA, Reeve HK, Aquadro CF (1988): Improved hybridization conditions for DNA "fingerprints" probed with M13. Nucleic Acids Res 16:4161.
19. Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT (1996): Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes. Am J Med Genet 64:261-265.
20. Zhong N, Yang W, Brown WT (1995): Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Med Genet 57:351-361.