Expand long PCR for fragile X mutation detection

Clinical Genetics

Volumn 52, Issue 3, 1997, Pages 147-154

  Hećimović, Silva ^a,d   Barišić, Ingeborg ^a   Müller, Andreas ^b   Petković, Iskra ^a   Barić, Ivo ^c   Ligutić, Ivo ^a   Pavelić, Krešimir ^a  

^a Alergologiju I Reumatologiju S Klini kom Imunologijom   (Croatia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c KBC Zagreb   (Croatia)

^d RUDER BO KOVI INSTITUTE   (Croatia)

Author keywords

CGG repeat amplificatian; FMR1 gene; Fragile X mutation detection; Fragile X syndrome; FRAXA locus

Indexed keywords

TRINUCLEOTIDE;

ALLELE; ARTICLE; DNA DETERMINATION; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; INTERMETHOD COMPARISON; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; SOUTHERN BLOTTING;

EID: 1842367311     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02535.x     Document Type: Article

References (15)

1. Abd El-Aleem A, Böhm I, Temtamy S, El-Awady M, Awadalla M, Schmidtke J, Stuhrmann M. Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Hum Genet 1995: 96: 577-584.
2. Carpenter NJ. Genetic anticipation. Pediatr Neurogenet 1994: 12: 683-697.
3. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991: 67: 1047-1058.
4. Innis MA. PCR with 7-deaza-2′-deoxyguanosine triphosphate. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR protocols: a guide to methods and applications. San Diego: Academic Press, 1990: 54-59.
5. n. Science 1991: 252: 1711-1714.
6. Milá M, Kruyer H, Glover G, Sánchez A, Carbonell P, Castellví-Bel S, Volpini V, Resell J, Gabarrón J, López I, Villa M, Ballesta F, Estivill X. Molecular analysis of the (CGG) n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. Hum Genet 1994: 94: 395-400.
7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
8. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. Instability of a 550 base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991: 252: 1097-1102.
9. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, van der Hagen C, de Lozier-Blanchet C, Croquette M-F, Gilgenkrantz S, Jalbert P, Voelckel M-A, Oberlé I, Mandel J-L. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991: 325: 1673-1681.
10. Sutherland GR. Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effect, and cytogenetics. Am J Hum Genet 1979: 31: 136-148.
11. Sutherland GR, Gedeon A, Kornman L, Donnelly A, Byard RW, Mulley JC, Kremer E, Lynch M, Prichard M, Yu S, Richards RI. Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med 1991: 325: 1720-1722.
12. Sutherland GR, Richards RI. Simple tandem DNA repeats and human genetic diseases. Proc Natl Acad Sci USA 1995: 92: 3636-3641.
13. Väisänen M-L, Kähkönen M, Leisti J. Diagnosis of fragile X syndrome by direct mutation analysis. Hum Genet 1994: 93: 143-147.
14. Verkerk AJM, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Bussen BE, van Ommen G-J, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. 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.
15. Wang Q, Green E, Bobrow M, Mathew CG. A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 1995: 32: 170-173.