Genetic screening of infertile men

被引:12
作者
Cram, D
Lynch, M
O'Bryan, MK
Salvado, C
McLachlan, RI
de Kretser, DM
机构
[1] Monash Univ, Monash Inst Reprod & Dev, Clayton, Vic, Australia
[2] Epworth Med Fdn, Monash IVF, Melbourne, Vic, Australia
[3] Monash Med Ctr, Dept Obstet & Gynaecol, Prince Henrys Inst Reprod & Dev, Melbourne, Vic, Australia
关键词
D O I
10.1071/RD03097
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Male infertility is an extraordinarily common medical condition, affecting 1 in 20 men. According to the World Health Organization, this condition is now considered to be a complex disease involving physical, genetic and environmental factors. With continuing advances in our understanding of male reproductive physiology and endocrinology, together with the availability of the complete sequence of the human genome and powerful functional genomic techniques, the stage is now set to identify the genes that are essential for spermatogenesis. Given that the process of spermatogenesis, from the germ cell to mature sperm, is complex, the challenge for research is to develop the strategies for identifying new genetic causes of idiopathic male infertility and defining genotypes associated with specific defects in semen parameters and testicular pathologies. Such information will form the basis of new genetic tests that will allow the clinician to make an accurate diagnosis of the male partner and a more informed decision about treatment options for the couple.
引用
收藏
页码:573 / 580
页数:8
相关论文
共 47 条
[1]   The genetic basis of male infertility [J].
Bhasin, S ;
Ma, K ;
Sinha, I ;
Limbo, M ;
Taylor, WE ;
Salehian, B .
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 1998, 27 (04) :783-+
[2]   Systematic approaches to mouse mutagenesis [J].
Brown, SDM ;
Balling, R .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2001, 11 (03) :268-273
[3]   MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J].
CHILLON, M ;
CASALS, T ;
MERCIER, B ;
BASSAS, L ;
LISSENS, W ;
SILBER, S ;
ROMEY, MC ;
RUIZROMERO, J ;
VERLINGUE, C ;
CLAUSTRES, M ;
NUNES, V ;
FEREC, C ;
ESTIVILL, X .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) :1475-1480
[4]   Haploinsufficiency of protamine-1 or-2 causes infertility in mice [J].
Cho, C ;
Willis, WD ;
Goulding, EH ;
Haesook, JH ;
Choi, YC ;
Hecht, NB ;
Eddy, EM .
NATURE GENETICS, 2001, 28 (01) :82-86
[5]   The Melbourne Pre-Diabetes Study: prediction of type 1 diabetes mellitus using antibody and metabolic testing [J].
Colman, PG ;
McNair, P ;
Margetts, H ;
Schmidli, RS ;
Werther, GA ;
Alford, FP ;
Ward, GM ;
Tait, BD ;
Honeyman, MC ;
Harrison, LC .
MEDICAL JOURNAL OF AUSTRALIA, 1998, 169 (02) :81-84
[6]   Mouse models of male infertility [J].
Cooke, HJ ;
Saunders, PTK .
NATURE REVIEWS GENETICS, 2002, 3 (10) :790-801
[7]  
Cram DS, 2001, J ANDROL, V22, P738
[8]   Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions [J].
Cram, DS ;
Ma, K ;
Bhasin, S ;
Arias, J ;
Pandjaitan, M ;
Chu, B ;
Audrins, P ;
Saunders, D ;
Quinn, F ;
deKretser, D ;
McLachlan, R .
FERTILITY AND STERILITY, 2000, 74 (05) :909-915
[9]   Targeted gene disruption of Hsp70-2 results in failed meiosis, germ cell apoptosis, and male infertility [J].
Dix, DJ ;
Allen, JW ;
Collins, BW ;
Mori, C ;
Nakamura, N ;
PoormanAllen, P ;
Goulding, EH ;
Eddy, EM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (08) :3264-3268
[10]   Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene [J].
Dowsing, AT ;
Yong, EL ;
Clark, M ;
McLachlan, RI ;
de Kretser, DM ;
Trounson, AO .
LANCET, 1999, 354 (9179) :640-643