메뉴 건너뛰기




Volumn 33, Issue 6, 2012, Pages 1075-1084

The genetics of male fertility-from basic science to clinical evaluation

Author keywords

Array comparative genomic hybridization; Exome sequencing; Fluorescence in situ hybridization; Karyotype; Sex chromosome; Whole genome sequencing

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 84874411690     PISSN: 01963635     EISSN: 19394640     Source Type: Journal    
DOI: 10.2164/jandrol.112.017103     Document Type: Article
Times cited : (26)

References (60)
  • 3
    • 34347239001 scopus 로고    scopus 로고
    • Approach to the infertile man
    • Bhasin S. Approach to the infertile man. J Clin Endocrinol Metab. 2007;92:1995-2004.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1995-2004
    • Bhasin, S.1
  • 4
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980;32:314-331.
    • (1980) Am J Hum Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 5
    • 0016558147 scopus 로고
    • Cytogenetics and infertility in man, I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic
    • Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M. Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet. 1975;39:231-54.
    • (1975) Ann Hum Genet , vol.39 , pp. 231-254
    • Chandley, A.C.1    Edmond, P.2    Christie, S.3    Gowans, L.4    Fletcher, J.5    Frackiewicz, A.6    Newton, M.7
  • 6
    • 14044257269 scopus 로고    scopus 로고
    • Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
    • Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005;20:437-442.
    • (2005) Hum Reprod , vol.20 , pp. 437-442
    • Clementini, E.1    Palka, C.2    Iezzi, I.3    Stuppia, L.4    Guanciali Franchi, P.5    Tiboni, G.M.6
  • 7
    • 0034974659 scopus 로고    scopus 로고
    • Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin
    • De Mas P, Daudin M, Vincent MC, Bourrouillou G, Calvas P, Mieusset R, Bujan L. Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum Reprod. 2001;16:1204-1208.
    • (2001) Hum Reprod , vol.16 , pp. 1204-1208
    • De Mas, P.1    Daudin, M.2    Vincent, M.C.3    Bourrouillou, G.4    Calvas, P.5    Mieusset, R.6    Bujan, L.7
  • 8
    • 0015115563 scopus 로고
    • Specific banding patterns of human chromosomes
    • Drets ME, Shaw MW. Specific banding patterns of human chromosomes. Proc Natl Acad Sci U S A. 1971;68:2073-2077.
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 2073-2077
    • Drets, M.E.1    Shaw, M.W.2
  • 11
    • 0026726412 scopus 로고
    • The human Y chromosome: overlapping DNA clones spanning the euchromatic region
    • Foote S, Vollrath D, Hilton A, Page DC. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science. 1992;258:60-66.
    • (1992) Science , vol.258 , pp. 60-66
    • Foote, S.1    Vollrath, D.2    Hilton, A.3    Page, D.C.4
  • 12
    • 49749223893 scopus 로고
    • A sexchromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)
    • Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. A sexchromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet. 1959;1:711-713.
    • (1959) Lancet , vol.1 , pp. 711-713
    • Ford, C.E.1    Jones, K.W.2    Polani, P.E.3    De Almeida, J.C.4    Briggs, J.H.5
  • 13
    • 0035012270 scopus 로고    scopus 로고
    • Y chromosome microdeletions and alterations of spermatogenesis
    • Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001;22:226-239.
    • (2001) Endocr Rev , vol.22 , pp. 226-239
    • Foresta, C.1    Moro, E.2    Ferlin, A.3
  • 14
    • 18744421893 scopus 로고
    • Techniques of DNA polymorphisms revealed by probes for the Y chromosome applied to questions of father-son line in analyses of paternity [in French]
    • Guerin P, Berriche S, Intrator S, Rouger P, Salmon D, Salmon C, Lucotte G. Techniques of DNA polymorphisms revealed by probes for the Y chromosome applied to questions of father-son line in analyses of paternity [in French]. Rev Fr Transfus Immunohematol. 1988;31:513-520.
    • (1988) Rev Fr Transfus Immunohematol , vol.31 , pp. 513-520
    • Guerin, P.1    Berriche, S.2    Intrator, S.3    Rouger, P.4    Salmon, D.5    Salmon, C.6    Lucotte, G.7
  • 15
    • 0028135361 scopus 로고
    • Significant medical pathology uncovered by a comprehensive male infertility evaluation
    • Honig SC, Lipshultz LI, Jarow J. Significant medical pathology uncovered by a comprehensive male infertility evaluation. Fertil Steril. 1994;62:1028-1034.
    • (1994) Fertil Steril , vol.62 , pp. 1028-1034
    • Honig, S.C.1    Lipshultz, L.I.2    Jarow, J.3
  • 16
    • 0042123550 scopus 로고    scopus 로고
    • Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod
    • Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003;18:1660-1665.
    • (2003) , vol.18 , pp. 1660-1665
    • Hopps, C.V.1    Mielnik, A.2    Goldstein, M.3    Palermo, G.D.4    Rosenwaks, Z.5    Schlegel, P.N.6
  • 18
    • 79551707028 scopus 로고    scopus 로고
    • The use of fluorescent in situ hybridization in male infertility
    • Hwang K, Weedin JW, Lamb DJ. The use of fluorescent in situ hybridization in male infertility. Ther Adv Urol. 2010;2:157-169.
    • (2010) Ther Adv Urol , vol.2 , pp. 157-169
    • Hwang, K.1    Weedin, J.W.2    Lamb, D.J.3
  • 19
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex-determining mechanism
    • Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183: 302-303.
    • (1959) Nature , vol.183 , pp. 302-303
    • Jacobs, P.A.1    Strong, J.A.2
  • 20
    • 0021979069 scopus 로고
    • Hypervariable 'minisatellite' regions in human DNA
    • Jeffreys AJ, Wilson V, Thein SL. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985;314:67-73.
    • (1985) Nature , vol.314 , pp. 67-73
    • Jeffreys, A.J.1    Wilson, V.2    Thein, S.L.3
  • 23
    • 0032032471 scopus 로고    scopus 로고
    • Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
    • Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry. 1998;31:163-173.
    • (1998) Cytometry , vol.31 , pp. 163-173
    • Kirchhoff, M.1    Gerdes, T.2    Rose, H.3    Maahr, J.4    Ottesen, A.M.5    Lundsteen, C.6
  • 24
    • 0013975323 scopus 로고
    • Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic
    • Kjessler B. Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic. Monogr Hum Genet. 1966;2:1-93.
    • (1966) Monogr Hum Genet , vol.2 , pp. 1-93
    • Kjessler, B.1
  • 27
    • 70449245071 scopus 로고
    • Study of somatic chromosomes from 9 mongoloid children [in French]
    • Lejeune J, Gautier M, Turpin R. Study of somatic chromosomes from 9 mongoloid children [in French]. C R Hebd Seances Acad Sci. 1959;248:1721-1722.
    • (1959) C R Hebd Seances Acad Sci , vol.248 , pp. 1721-1722
    • Lejeune, J.1    Gautier, M.2    Turpin, R.3
  • 28
    • 0033785455 scopus 로고    scopus 로고
    • Comparative genomic hybridization: uses and limitations
    • Lichter P, Joos S, Bentz M, Lampel S. Comparative genomic hybridization: uses and limitations. Semin Hematol. 2000;37: 348-357.
    • (2000) Semin Hematol , vol.37 , pp. 348-357
    • Lichter, P.1    Joos, S.2    Bentz, M.3    Lampel, S.4
  • 29
    • 77950507176 scopus 로고    scopus 로고
    • Individual genomes on the horizon
    • Lifton RP. Individual genomes on the horizon. N Engl J Med. 2010;362:1235-1236.
    • (2010) N Engl J Med , vol.362 , pp. 1235-1236
    • Lifton, R.P.1
  • 33
    • 55549115368 scopus 로고    scopus 로고
    • The biology of infertility: research advances and clinical challenges
    • Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med. 2008;14:1197-1213.
    • (2008) Nat Med , vol.14 , pp. 1197-1213
    • Matzuk, M.M.1    Lamb, D.J.2
  • 34
    • 0001691892 scopus 로고
    • Notes on the accessory chromosome
    • McClung CE. Notes on the accessory chromosome. Anatomischer Anzeiger. 1901;20:220-226.
    • (1901) Anatomischer Anzeiger , vol.20 , pp. 220-226
    • McClung, C.E.1
  • 35
    • 0002416838 scopus 로고
    • The accessory chromosome-sex determinant?
    • McClung CE. The accessory chromosome-sex determinant? Biol Bull. 1902;3:43-84.
    • (1902) Biol Bull , vol.3 , pp. 43-84
    • McClung, C.E.1
  • 36
    • 84874418181 scopus 로고    scopus 로고
    • Sex chromosomes and sex determination
    • Miko I, ed. Nature Education. Available at, Accessed April 2012
    • Miko I. Sex chromosomes and sex determination. In: Miko I, ed. Nature Education. Available at http://www.nature.com/scitable/ topicpage/sex-chromosomes-and-sex-determination-44565, 2008. Accessed April 2012.
    • (2008)
    • Miko, I.1
  • 37
    • 9244243681 scopus 로고    scopus 로고
    • Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy
    • Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996;81:1347-1352.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1347-1352
    • Najmabadi, H.1    Huang, V.2    Yen, P.3    Subbarao, M.N.4    Bhasin, D.5    Banaag, L.6    Naseeruddin, S.7    de Kretser, D.M.8    Baker, H.W.9    McLachlan, R.I.10
  • 40
    • 0030253042 scopus 로고    scopus 로고
    • Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men
    • Qureshi SJ, Ross AR, Ma K, Cooke HJ, Intyre MA, Chandley AC, Hargreave TB. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod. 1996;2:775-779.
    • (1996) Mol Hum Reprod , vol.2 , pp. 775-779
    • Qureshi, S.J.1    Ross, A.R.2    Ma, K.3    Cooke, H.J.4    Intyre, M.A.5    Chandley, A.C.6    Hargreave, T.B.7
  • 41
    • 0029871858 scopus 로고    scopus 로고
    • Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome
    • Reijo R, Alagappan RK, Patrizio P, Page DC. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet. 1996;347:1290-1293.
    • (1996) Lancet , vol.347 , pp. 1290-1293
    • Reijo, R.1    Alagappan, R.K.2    Patrizio, P.3    Page, D.C.4
  • 44
    • 0030760559 scopus 로고    scopus 로고
    • Use of fluorescence in situ hybridization (FISH) to assess effects of smoking, caffeine, and alcohol on aneuploidy load in sperm of healthy men
    • Robbins WA, Vine MF, Truong KY, Everson RB. Use of fluorescence in situ hybridization (FISH) to assess effects of smoking, caffeine, and alcohol on aneuploidy load in sperm of healthy men. Environ Mol Mutagen. 1997;30:175-183.
    • (1997) Environ Mol Mutagen , vol.30 , pp. 175-183
    • Robbins, W.A.1    Vine, M.F.2    Truong, K.Y.3    Everson, R.B.4
  • 45
    • 0019781725 scopus 로고
    • Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis
    • Schmid M, Gall H, Schempp W, Weber L, Schmidtke J. Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis. Hum Genet. 1981;59:26-35.
    • (1981) Hum Genet , vol.59 , pp. 26-35
    • Schmid, M.1    Gall, H.2    Schempp, W.3    Weber, L.4    Schmidtke, J.5
  • 46
    • 36348975713 scopus 로고    scopus 로고
    • The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
    • Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet. 2007;145C:335-345.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 C , pp. 335-345
    • Shaffer, L.G.1    Bejjani, B.A.2    Torchia, B.3    Kirkpatrick, S.4    Coppinger, J.5    Ballif, B.C.6
  • 49
    • 50549178441 scopus 로고
    • Cytological identification of male and female somatic cells in the mouse
    • Stich HF, Hsu TC. Cytological identification of male and female somatic cells in the mouse. Exp Cell Res. 1960;20:248-249.
    • (1960) Exp Cell Res , vol.20 , pp. 248-249
    • Stich, H.F.1    Hsu, T.C.2
  • 50
    • 0020663974 scopus 로고
    • A sib-pair strategy for the use of restriction fragment length polymorphisms to study the mode of transmission of type II diabetes
    • Suarez BK. A sib-pair strategy for the use of restriction fragment length polymorphisms to study the mode of transmission of type II diabetes. Am J Hum Genet. 1983;35:34-48.
    • (1983) Am J Hum Genet , vol.35 , pp. 34-48
    • Suarez, B.K.1
  • 51
    • 0001858897 scopus 로고
    • On the morphology of the chromosome group in brachystola magna
    • Sutton WS. On the morphology of the chromosome group in brachystola magna. Biol Bull. 1902;4:24-39.
    • (1902) Biol Bull , vol.4 , pp. 24-39
    • Sutton, W.S.1
  • 52
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
    • Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119-124.
    • (1976) Hum Genet , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 54
    • 0031871643 scopus 로고    scopus 로고
    • Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod
    • Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod. 1998;4:739-744.
    • (1998) , vol.4 , pp. 739-744
    • Vogt, P.H.1
  • 57
    • 78650130632 scopus 로고    scopus 로고
    • Next generation sequencing allows deeper analysis and understanding of genomes and transcriptomes including aspects to fertility
    • Werner T. Next generation sequencing allows deeper analysis and understanding of genomes and transcriptomes including aspects to fertility. Reprod Fertil Dev. 2011;23:75-80.
    • (2011) Reprod Fertil Dev , vol.23 , pp. 75-80
    • Werner, T.1
  • 58
    • 0011346756 scopus 로고
    • The chromosomes in relation to the determination of sex in insects
    • Wilson EB. The chromosomes in relation to the determination of sex in insects. Science. 1905;22:500-502.
    • (1905) Science , vol.22 , pp. 500-502
    • Wilson, E.B.1
  • 59
    • 37049211027 scopus 로고
    • Selective fertilization and the relation of the chromosomes to sex-production
    • Wilson EB. Selective fertilization and the relation of the chromosomes to sex-production. Science. 1910;32:242-244.
    • (1910) Science , vol.32 , pp. 242-244
    • Wilson, E.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.