메뉴 건너뛰기




Volumn 13, Issue 3, 2012, Pages 174-178

Detection of partial deletions of Y-chromosome AZFc in infertile men using the multiplex ligation-dependent probe amplification assay

Author keywords

Causality; Gene dosage; Infertility; Microdeletions; Molecular genetics; Y Chromosome

Indexed keywords

ACCURACY; ARTICLE; CHROMOSOME DELETION Y; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER PROGRAM; CONTROLLED STUDY; DIAGNOSTIC KIT; HUMAN; MALE; MALE INFERTILITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEIC ACID PROBE; PARTIAL AZOOSPERMIA FACTOR C REGION DELETION;

EID: 84866077628     PISSN: 22285482     EISSN: 2251676X     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (28)
  • 1
    • 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(2):119-24.
    • (1976) Hum Genet , vol.34 , Issue.2 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 2
    • 77955636758 scopus 로고    scopus 로고
    • The AZFc region of the Y chromosome: At the crossroads between genetic diversity and male infertility
    • Navarro-Costa P, Gonçalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update. 2010;16(5):525-42.
    • (2010) Hum Reprod Update , vol.16 , Issue.5 , pp. 525-542
    • Navarro-Costa, P.1    Gonçalves, J.2    Plancha, C.E.3
  • 4
    • 12444336969 scopus 로고    scopus 로고
    • Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis
    • Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod. 2005;20(1):191-7.
    • (2005) Hum Reprod , vol.20 , Issue.1 , pp. 191-197
    • Hucklenbroich, K.1    Gromoll, J.2    Heinrich, M.3    Hohoff, C.4    Nieschlag, E.5    Simoni, M.6
  • 5
    • 33645744404 scopus 로고    scopus 로고
    • A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians
    • Zhang F, Li Z, Wen B, Jiang J, Shao M, Zhao Y, et al. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet. 2006;70(Pt 3):304-13.
    • (2006) Ann Hum Genet , vol.70 , Issue.PART 3 , pp. 304-313
    • Zhang, F.1    Li, Z.2    Wen, B.3    Jiang, J.4    Shao, M.5    Zhao, Y.6
  • 7
    • 58549105128 scopus 로고    scopus 로고
    • Phenotypic variation within European carriers of the Y-chromo somal gr/gr deletion is independent of Y-chromosomal background
    • Krausz C, Giachini C, Xue Y, O'Bryan MK, Gromoll J, Rajpert-de Meyts E, et al. Phenotypic variation within European carriers of the Y-chromo somal gr/gr deletion is independent of Y-chromosomal background. J Med Genet. 2009;46(1):21-31.
    • (2009) J Med Genet , vol.46 , Issue.1 , pp. 21-31
    • Krausz, C.1    Giachini, C.2    Xue, Y.3    O'Bryan, M.K.4    Gromoll, J.5    Rajpert-de Meyts, E.6
  • 8
    • 4043092052 scopus 로고    scopus 로고
    • EAA/EMQN best practice guidelines for molecular diagnosis of ychromosomal microdeletions. State of the art 2004
    • Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of ychromosomal microdeletions. State of the art 2004. Int J Androl. 2004;27(4):240-9.
    • (2004) Int J Androl , vol.27 , Issue.4 , pp. 240-249
    • Simoni, M.1    Bakker, E.2    Krausz, C.3
  • 9
  • 10
    • 79957480628 scopus 로고    scopus 로고
    • Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count
    • Noordam MJ, Westerveld GH, Hovingh SE, van Daalen SK, Korver CM, van der Veen F, et al. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum Mol Genet. 2011;20(12):2457-63.
    • (2011) Hum Mol Genet , vol.20 , Issue.12 , pp. 2457-2463
    • Noordam, M.J.1    Westerveld, G.H.2    Hovingh, S.E.3    Van Daalen, S.K.4    Korver, C.M.5    Van Der Veen, F.6
  • 11
    • 34347224382 scopus 로고    scopus 로고
    • A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population
    • Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, et al. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod. 2007;22(4):1107-13.
    • (2007) Hum Reprod , vol.22 , Issue.4 , pp. 1107-1113
    • Wu, B.1    Lu, N.X.2    Xia, Y.K.3    Gu, A.H.4    Lu, C.C.5    Wang, W.6
  • 12
    • 42049097635 scopus 로고    scopus 로고
    • Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
    • Yang Y, Ma M, Li L, Zhang W, Xiao C, Li S, et al. Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population. J Med Genet. 2008;45(4):210-5.
    • (2008) J Med Genet , vol.45 , Issue.4 , pp. 210-215
    • Yang, Y.1    Ma, M.2    Li, L.3    Zhang, W.4    Xiao, C.5    Li, S.6
  • 13
    • 55749092276 scopus 로고    scopus 로고
    • Partial AZFc deletions and duplications: Clinical correlates in the Italian population
    • Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet. 2008;124(4):399-410.
    • (2008) Hum Genet , vol.124 , Issue.4 , pp. 399-410
    • Giachini, C.1    Laface, I.2    Guarducci, E.3    Balercia, G.4    Forti, G.5    Krausz, C.6
  • 14
    • 0242298320 scopus 로고    scopus 로고
    • Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
    • Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet. 2003;35(3):247-51.
    • (2003) Nat Genet , vol.35 , Issue.3 , pp. 247-251
    • Repping, S.1    Skaletsky, H.2    Brown, L.3    Van Daalen, S.K.4    Korver, C.M.5    Pyntikova, T.6
  • 15
    • 2642530984 scopus 로고    scopus 로고
    • A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
    • Repping S, van Daalen SK, Korver CM, Brown L G, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004;83(6):1046-52.
    • (2004) Genomics , vol.83 , Issue.6 , pp. 1046-1052
    • Repping, S.1    Van Daalen, S.K.2    Korver, C.M.3    Brown, L.G.4    Marszalek, J.D.5    Gianotten, J.6
  • 16
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
    • Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer. 2004;91(6):1155-9.
    • (2004) Br J Cancer , vol.91 , Issue.6 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Sillibourne, J.3    Wilkins, E.4    Thomas, N.S.5    Shea-Simonds, J.6
  • 17
    • 33646401095 scopus 로고    scopus 로고
    • Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
    • Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet. 2006;43(5):451-6.
    • (2006) J Med Genet , vol.43 , Issue.5 , pp. 451-456
    • Archer, H.L.1    Whatley, S.D.2    Evans, J.C.3    Ravine, D.4    Huppke, P.5    Kerr, A.6
  • 18
    • 33746485559 scopus 로고    scopus 로고
    • Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots
    • Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, et al. Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet. 2006;79(2):409-14.
    • (2006) Am J Hum Genet , vol.79 , Issue.2 , pp. 409-414
    • Benito-Sanz, S.1    Gorbenko Del Blanco, D.2    Huber, C.3    Thomas, N.S.4    Aza-Carmona, M.5    Bunyan, D.6
  • 20
    • 35148812787 scopus 로고    scopus 로고
    • SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    • Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007;91(11):1471-6.
    • (2007) Br J Ophthalmol , vol.91 , Issue.11 , pp. 1471-1476
    • Bakrania, P.1    Robinson, D.O.2    Bunyan, D.J.3    Salt, A.4    Martin, A.5    Crolla, J.A.6
  • 21
    • 43049138393 scopus 로고    scopus 로고
    • Severe Marfan syndrome due to FBN1 exon deletions
    • Blyth M, Foulds N, Turner C, Bunyan D. Severe Marfan syndrome due to FBN1 exon deletions. Am J Med Genet A. 2008;146A(10):1320-4.
    • (2008) Am J Med Genet A , vol.146 A , Issue.10 , pp. 1320-1324
    • Blyth, M.1    Foulds, N.2    Turner, C.3    Bunyan, D.4
  • 22
    • 55549118950 scopus 로고    scopus 로고
    • Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
    • Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, et al. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008;29(11):E278-83.
    • (2008) Hum Mutat , vol.29 , Issue.11
    • Wyatt, A.1    Bakrania, P.2    Bunyan, D.J.3    Osborne, R.J.4    Crolla, J.A.5    Salt, A.6
  • 23
    • 66849111902 scopus 로고    scopus 로고
    • Further case of Rubinstein-Taybi syndrome due to a deletion in EP300
    • Foley P, Bunyan D, Stratton J, Dillon M, Lynch S A. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. 2009;149A(5):997-1000.
    • (2009) Am J Med Genet A , vol.149 A , Issue.5 , pp. 997-1000
    • Foley, P.1    Bunyan, D.2    Stratton, J.3    Dillon, M.4    Lynch, S.A.5
  • 24
    • 67649869569 scopus 로고    scopus 로고
    • Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
    • Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, et al. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am J Med Genet A. 2009;149A(7):1407-14.
    • (2009) Am J Med Genet A , vol.149 A , Issue.7 , pp. 1407-1414
    • Thomas, N.S.1    Harvey, J.F.2    Bunyan, D.J.3    Rankin, J.4    Grigelioniene, G.5    Bruno, D.L.6
  • 25
    • 34247386718 scopus 로고    scopus 로고
    • Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene
    • Bunyan DJ, Skinner AC, Ashton EJ, Sillibourne J, Brown T, Collins AL, et al. Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. Mol Biotechnol. 2007; 35(2):135-40.
    • (2007) Mol Biotechnol , vol.35 , Issue.2 , pp. 135-140
    • Bunyan, D.J.1    Skinner, A.C.2    Ashton, E.J.3    Sillibourne, J.4    Brown, T.5    Collins, A.L.6
  • 26
    • 37249022274 scopus 로고    scopus 로고
    • 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
    • Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, et al. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet. 2008;16(1):18-27.
    • (2008) Eur J Hum Genet , vol.16 , Issue.1 , pp. 18-27
    • Barber, J.C.1    Maloney, V.K.2    Huang, S.3    Bunyan, D.J.4    Cresswell, L.5    Kinning, E.6
  • 27
    • 57749094931 scopus 로고    scopus 로고
    • Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties
    • Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet. 2009;17(1):37-43.
    • (2009) Eur J Hum Genet , vol.17 , Issue.1 , pp. 37-43
    • Glancy, M.1    Barnicoat, A.2    Vijeratnam, R.3    De Souza, S.4    Gilmore, J.5    Huang, S.6
  • 28
    • 77949470049 scopus 로고    scopus 로고
    • 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
    • Barber JC, Bunyan D, Curtis M, Robinson D, Morlot S, Dermitzel A, et al. 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Mol Cytogenet. 2010;3:3.
    • (2010) Mol Cytogenet , vol.3 , pp. 3
    • Barber, J.C.1    Bunyan, D.2    Curtis, M.3    Robinson, D.4    Morlot, S.5    Dermitzel, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.