Aneuploidy detection in human sperm nuclei using PRINS technique

American Journal of Medical Genetics

Volumn 64, Issue 3, 1996, Pages 488-492

  Girardet, Anne ^a   Coignet, Lionel ^a   Andréo, Brigitte ^a   Lefort, Geneviève ^b   Charlieu, Jean Paul ^c   Pellestor, Franck ^a,d  

^a CNRS   (France)

^b Hopital Saint Charles   (France)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d Centre National de la Recherche Scientifique   (France)

Author keywords

aneuploidy; chromosomes; human sperm; PRINS

Indexed keywords

SATELLITE DNA;

ADULT; ANEUPLOIDY; ARTICLE; CELL LABELING; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 17; CHROMOSOME 3; CHROMOSOME 7; DIPLOIDY; DISOMY; DNA SEQUENCE; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; SPERM;

ADULT; ANEUPLOIDY; CELL NUCLEUS; DNA, SATELLITE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; POLYMERASE CHAIN REACTION; SPERMATOZOA;

EID: 0029815984     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960823)64:3<488::AID-AJMG8>3.0.CO;2-L     Document Type: Article

References (27)

1. Bischoff FZ, Nguyen DD, Burt KJ, Shaffer LG (1994): Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm. Cytogenet Cell Genet 66:237-243.
2. Choo KH, Vissel B, Nagy A, Earle E, Kalitsis P (1991): A survey of the genomic distribution of alpha satellite DNA on all the human chromosomes, and derivation of a new consensus sequence. Nucleic Acids Res 19:1179-1182.
3. Guttenbach M, Schmid M (1991): Non-isotopic detection of chromosome 1 in human meiosis and demonstration of disomic sperm nuclei. Hum Genet 87:261-265.
4. Guttenbach M, Schakowski R, Schmid M (1994): Incidence of chromosome 3, 7, 10, 11, 17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization. Hum Genet 93:7-12.
5. Han TL, Webb GC, Flaherty SP, Correll A, Matthews CD, Ford JH (1992): Detection of chromosome 17- and X-bearing human spermatozoa using fluorescence in situ hybridization. Mol Reprod Dev 33:189-194.
6. Jackson-Cook C, Haller VL (1991): Estimation of aneuploidy levels in human spermatozoa using chromosome complements and chromosome specific probes. Am J Hum Genet [Suppl] 49:83.
7. Koch JE, Hindkjaer J, Mogensen J, Kolvraa S, Bolund L (1991): An improved method for chromosome-specific labeling of satellite DNA in situ by using denatured double-stranded DNA probes as primers in a primed in situ labelling (PRINS) procedure. Genet Anal Tech Appl 8:171-178.
8. Lebo RV, Flandermeyer RR, Diukman R, Lynch ED, Lepercq JA, Golbus MS (1992): Prenatal diagnosis with repetitive in situ hybridization probes. Am J Med Genet 43:848-854.
9. Lu PY, Hammitt DG, Zinsmeister AR, Dewald GW (1994): Dual color fluorescence in situ hybridization to investigate aneuploidy in sperm from 33 normal males and a man with a t(2;4;8)(q23;q27;p21). Fertil Steril 62:394-399.
10. Martin RH, Rademaker AW (1987): The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet 41:484-192.
11. Martin RH, Rademaker AW (1990): The frequency of aneuploidy among individual chromosomes in 6821 human sperm chromosome complements. Cytogenet Cell Genet 53:103-107.
12. Martin RH, Rademaker A (1994): Reliability of aneuploidy estimates in human sperm: Results of fluorescence in situ hybridization studies using two different scoring criteria. Am J Hum Genet [Suppl] 55:110.
13. Martin RH, Balkan W, Burns K, Rademaker AW (1983): The chromosomal constitution of 1000 human spermatozoa. Hum Genet 63:305-309.
14. Martin RH, Ko E, Chan K (1993): Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH). Cytogenet Cell Genet 64:23-26.
15. Martin RH, Chan K, Ko E, Rademaker A (1994): Detection of aneuploidy in human sperm by fluorescence in situ hybridization (FISH): Different frequencies in fresh and stored sperm nuclei. Cytogenet Cell Genet 65:95-96.
16. Miharu N, Best RG, Young R (1994): Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization. Hum Genet 93:502-506.
17. Pellestor F (1991): Differential distribution of aneuploidies in human gametes according to their sex. Hum Reprod 6:1252-1258.
18. Pellestor F, Sèle B, Jalbert H, Jalbert P (1989): Direct segregation analysis of reciprocal translocations: A study of 283 sperm karyotypes from four carriers. Am J Hum Genet 44:464-473.
19. Pellestor F, Girardet A, Andréo B, Charlieu JP (1994): A polymorphic alpha satellite sequence specific for human chromosome 13 detected by oligonucleotide PRimed IN Situ labelling (PRINS). Hum Genet 94:346-348.
20. Pellestor F, Girardet A, Lefort G, Andréo B, Charlieu JP (1995a): Selection of chromosome specific primers and their use in simple and double PRINS techniques for rapid in situ identification of human chromosomes. Cytogenet Cell Genet 70:138-142.
21. Pellestor F, Girardet A, Lefort G, Andrèo B, Charlieu JP (1995b): PRINS as a method for rapid chromosomal labeling on human spermatozoa. Mol Reprod Dev 40:333-337.
22. Robbins WA, Seagraves R, Pinkel D, Wyrobek AJ (1993): Detection of aneuploid human sperm by fluorescence in situ hybridization: Evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y. Am J Hum Genet 52:799-807.
23. Rudak E, Jacobs PA, Yanagimachi L (1978): Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911-913.
24. Spriggs EL, Rademaker AW, Martin RH (1995): Aneuploidy in human sperm: Results of two- and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X and Y. Cytogenet Cell Genet 71:47-53.
25. Waye JS, Willard HF (1987): Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: A survey of alphoid sequences from different human chromosomes. Nucleic Acids Res 15:7549-7562.
26. Williams BJ, Ballenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA, Hassold TJ (1993): Non-disjunction in human sperm: Results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet 2:1929-1936.
27. Wyrobek AJ, Robbins WA, Tang C, Kobayashi A, Baulch J, Weier HU, Pinkel D (1993): Hierarchical organization of human sperm chromatin is a critical factor in the detection of chromosomal aneuploidies by fluorescence in situ hybridization. Am J Hum Genet 53:130.