Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases.

BACKGROUND Most meiotic studies in metaphase spermatocytes have been carried out with classic cytogenetic techniques. The aim of this work was to adjust the centromere-specific multicolour fluorescence in situ hybridization (cenM-FISH) procedure to spermatocyte metaphases I and II in order to improve the identification of meiotic chromosome abnormalities. METHODS A total of 168 spermatocytes I and 66 spermatocytes II from two fertile males have been studied using cenM-FISH. RESULTS The mean frequency of meiotic abnormalities (synaptic, numerical and structural errors) found in metaphases I and II was 22.1 and 3.0%, respectively. The cenM-FISH technique has not only enabled the individual identification of chromosomes involved in meiotic disorders, but also increased the number of analysable cells, principally at metaphase II stage. CONCLUSIONS CenM-FISH is a useful tool to study the meiotic chromosomal disorders and mechanisms leading to chromosomally abnormal spermatozoa.

[1]  J. Egozcue,et al.  Three Cases of Low Chiasma Frequency Associated with Infertility in Man , 2009, Andrologia.

[2]  C. Templado,et al.  Premature separation of sister chromatids in human male meiosis. , 2008, Human reproduction.

[3]  A. Rademaker,et al.  Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. , 2006, Human molecular genetics.

[4]  N. S. Thomas,et al.  Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man , 2006, Human Genetics.

[5]  T. Liehr,et al.  Karyotyping of human oocytes by cenM-FISH, a new 24-colour centromere-specific technique. , 2005, Human Reproduction.

[6]  J. Benet,et al.  Frequency and distribution of chromosome abnormalities in human spermatozoa , 2005, Cytogenetic and Genome Research.

[7]  J. Egozcue,et al.  Meiotic abnormalities in infertile males , 2005, Cytogenetic and Genome Research.

[8]  T. Liehr,et al.  Karyotyping of human synaptonemal complexes by cenM-FISH , 2003, European Journal of Human Genetics.

[9]  M. Rocchi,et al.  A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH) , 2001, Human Genetics.

[10]  M. R. Martorell,et al.  An analysis of human sperm chromosome breakpoints. , 1995, American journal of human genetics.

[11]  J. Hamerton.  The cytogenetics of mammalian autosomal rearrangements. , 1989 .

[12]  S. Roberts.  The Cytogenetics of Mammalian Autosomal Rearrangements , 1989 .

[13]  D. Moore,et al.  An analysis of structural aberrations in human sperm chromosomes. , 1988, Cytogenetics and cell genetics.

[14]  A. Rademaker,et al.  Variation in the frequency and type of sperm chromosomal abnormalities among normal men , 1987, Human Genetics.

[15]  M. Guichaoua,et al.  Direct estimation of the non-disjunction rate at first meiotic division in the human male , 1986, Human Genetics.

[16]  D. Laurie,et al.  Further studies on bivalent chiasma frequency in human males with normal karyotypes , 1985, Annals of human genetics.

[17]  D. Laurie,et al.  A direct cytogenetic technique for assessing the rate of first meiotic non‐disjunction in the human male by the analysis of cells at metaphase II , 1985, Annals of human genetics.

[18]  A. Chandley,et al.  Cytogenetics and infertility in man * : II. Testicular histology and meiosis , 1976, Annals of human genetics.

[19]  S. Christie,et al.  Cytogenetics and infertility in man * , 1975, Annals of human genetics.

[20]  N. Skakkebaek,et al.  Studies on meiotic chromosomes in infertile men and controls with normak karyotypes. , 1973, Journal of reproduction and fertility.

[21]  Luciani Jm.  Meiotic chromosomes of humans. II. The nucleolus. The chiasmata. 3. Male sterility , 1970 .

[22]  J. Egozcue,et al.  A new meiotic mutation: Desynapsis of individual bivalents , 2004, Human Genetics.

[23]  J. Egozcue,et al.  Meiotic studies in a series of 1100 infertile and sterile males , 2004, Human Genetics.

[24]  J. Egozcue,et al.  Colcemid increases the frequency of chromosome abnormalities in human sperm. , 1996, Cytogenetics and cell genetics.

[25]  Iscn.  International System for Human Cytogenetic Nomenclature , 1978 .

[26]  J. Luciani.  [Meiotic chromosomes of humans. II. The nucleolus. The chiasmata. 3. Male sterility]. , 1970, Annales de genetique.

[27]  C. E. Ford,et al.  AN AIR-DRYING METHOD FOR MEIOTIC PREPARATIONS FROM MAMMALIAN TESTES. , 1964, Cytogenetics.