Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males

作者: Claire R Quilter , Elizabeth C Svennevik , Paul Serhal , David Ralph , Gulam Bahadur

DOI: 10.1016/S0015-0282(02)04692-7

关键词:

摘要: Abstract Objective To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients. Design A study of a random group men. Setting University department. Patient(s) In total, 40 patients had azoospermia (21 nonidiopathic), 27 severe oligozoospermia/oligoasthenozoospermia (≤5 × 10 6 /mL) (5 20 (5–20 (6 16 asthenozoospermia nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI). Intervention(s) Collection blood samples from buccal cells one patient. Main outcome measure(s) Karyotype analysis, polymerase chain reaction (PCR) microdeletions, fluorescence in situ hybridization abnormal chromosomes. Result(s) Ten (9.7%) subjects, including nonidiopathic patient, found have an karyotype. Two idiopathic azoospermic missing large portions euchromatin, confirmed by PCR analysis additional patient microdeletion. Conclusion(s) Routine is required but it may be advisable limit with factor infertility /mL).

参考文章(30)
E B Hook, Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use American Journal of Human Genetics. ,vol. 29, pp. 94- 97 ,(1977)
Grant R. Sutherland, Lisa G. Shaffer, R. J. M. Gardner, Chromosome Abnormalities and Genetic Counseling ,(1989)
ANN C CHANDLEY, The chromosomal basis of human infertility. British Medical Bulletin. ,vol. 35, pp. 181- 186 ,(1979) , 10.1093/OXFORDJOURNALS.BMB.A071567
R Lilford, A M Jones, D T Bishop, J Thornton, R Mueller, Case-control study of whether subfertility in men is familial BMJ. ,vol. 309, pp. 570- 573 ,(1994) , 10.1136/BMJ.309.6954.570
Yun-Fai Chris Lau, Nabeel A. Affara, Report of the Second International Workshop on Human Y Chromosome Mapping 1995 Cytogenetic and Genome Research. ,vol. 73, pp. 33- 76 ,(1996) , 10.1159/000134310
Eva Zeuthen, Johannes Nielsen, Pericentric Y inversion in the general population. Human Genetics. ,vol. 19, pp. 265- 270 ,(1973) , 10.1007/BF00278400
D Vollrath, S Foote, A Hilton, L. Brown, P Beer-Romero, J. Bogan, D. Page, The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science. ,vol. 258, pp. 52- 59 ,(1992) , 10.1126/SCIENCE.1439769
Herman Tournaye, 7b Use of testicular sperm for the treatment of male infertility Best Practice & Research in Clinical Obstetrics & Gynaecology. ,vol. 11, pp. 753- 762 ,(1997) , 10.1016/S0950-3552(97)80011-9
G. Bourrouillou, N. Dastugue, P. Colomies, Chromosome studies in 952 infertile males with a sperm count below 10 million/ml Human Genetics. ,vol. 71, pp. 366- 367 ,(1985) , 10.1007/BF00388466
Debomoy K. Lahiri, John I. Numberger, A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies Nucleic Acids Research. ,vol. 19, pp. 5444- 5444 ,(1991) , 10.1093/NAR/19.19.5444