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Year : 2017  |  Volume : 10  |  Issue : 4  |  Page : 256-260

Azoospermia factor C subregion of the Y chromosome

Department of Genetics, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, Anand, Gujarat, India

Date of Web Publication15-Jan-2018

Correspondence Address:
Dr. Jenabhai B Chauhan
Department of Genetics, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, New Vallabh Vidyanagar, Anand - 388 121, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.JHRS_16_17

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The azoospermia factor (AZF) region on the Y chromosome consists of genes required for spermatogenesis. Among the three subregions, the AZFc subregion located at the distal portion of AZF is the driver for genetic variation in Y chromosome. The candidate gene of AZFc is known as deleted in azoospermia gene, which is studied with interest because it is involved in germ cell development and most frequently deleted genes leading to oligozoospermia and azoospermia. Recently, two partial deletions in AZFc gr/gr and b2/b3 are characterized at the molecular level which showed homologous recombination between amplicons, affecting spermatogenesis process. There are novel methods and commercially available kits for accurate screening and characterization of microdeletions. It is important to detect the AZFc microdeletions through genetic screening and counseling those infertile men who planned to avail assisted reproduction techniques such as undergoing intracytoplasmic sperm injection or in vitro fertilization.

Keywords: Azoospermia factor c microdeletion, azoospermia factor region, b2/b3 deletion, deleted in azoospermia, gr/gr deletion, male infertility, sequence-tagged site polymerase chain reaction, Y chromosome

How to cite this article:
Nailwal M, Chauhan JB. Azoospermia factor C subregion of the Y chromosome. J Hum Reprod Sci 2017;10:256-60

How to cite this URL:
Nailwal M, Chauhan JB. Azoospermia factor C subregion of the Y chromosome. J Hum Reprod Sci [serial online] 2017 [cited 2022 Jul 6];10:256-60. Available from:

   Introduction Top

Infertility is defined as the inability to conceive or produce an offspring after 1 year (time to pregnancy) of regular unprotected intercourse.[1],[2] Approximately 15% of couples are affected with infertility,[3],[4],[5] in which male factor infertility accounts for approximately 50% with genetic abnormalities alone account for 15%–30% of male factor infertility.[6] Genetic factors contribute to male infertility by influencing a variety of physiological processes including hormonal homeostasis, spermatogenesis, and sperm quality. Male infertility screening is carried out using semen analysis according to standard reference values of the World Health Organization.[7]

Genetic cause, especially chromosomal aberrations and microdeletions of the Y chromosome, is considered to be major and well characterized cause of male infertility for azoospermia and severe oligozoospermia males.[6],[8] Mostly the male infertility is a de novo event of genetic origin, which originates during the spermatogenesis.[9] More than 4000 genes are said to be involved in human spermatogenesis.[10] Recognition of azoospermia factor (AZF) region on the long arm of the Y chromosome is the second most common accountable genetic cause of spermatogenic failure. Molecular screening of Y chromosome microdeletions explained the tripartite (AZFa, AZFb, and AZFc) organization which regulates spermatogenesis.[11] It has been reported that the AZF region harbors 12 genes/gene families by DNA sequencing analysis.[12],[13]

Worldwide, several studies in recent years have investigated the association of infertile male phenotype with selected gene sequence polymorphism. The heterogeneity of the phenotype due to selection criteria, population structure, ethnic background, environmental influence, and epigenetic factors are the most important limitations. Therefore, in this review article, we present a brief overview of the AZFc subregion as deletion in this region is a genetic risk factor for spermatogenic failure and to understand the genetic complexity of the AZFc sub-region of human Y chromosome.

   Azoospermia Factor C Region Top

The AZFc subregion has been studied extensively as the frequency of AZFc deletion is high among azoospermic and oligozoospermic men [11] which results in severe spermatogenic failure were sperm count is <5 million/ml of semen in nonobstructive males. In recent years, partial deletions in the AZFc subregion have been studied at the molecular level.[14] Four partial deletions have been identified which are b2/b4, gr/gr, b2/b3, and b1/b3.[15],[16],[17] Among these four, gr/gr deletion is the most common deletion occurring because of recombination.[18]

AZFc subregion has very long repeat units, called amplicons which contains eight multicopy gene families, namely deleted in azoospermia (DAZ), basic protein Y2, chromodomain on Y (CDY1), golgi autoantigen, golgin subfamily a2 like Y, chondroitin sulfate proteoglycan 4 like Y, testis-specific transcript, Y (TTTY)-linked 3, TTTY4, and TTTY17.[13],[16],[19] Nonallelic homologous recombination (NAHR) occurs between amplicons which include deletions, duplication, or both leads to copy number alteration of genes in the AZFc subregion.[20] DAZ family genes were the first genes to be identified in azoospermic cases.[19] DAZ protein polymorphic expression denoting the diverse activities of each DAZ copy.[21] It is necessary to study the DAZ copies and other related gene deletion pattern to know the association between AZFc polymorphism and infertility in males.[22] Furthermore, there is an effect of copy number variations (CNVs) of all the eight gene families on male infertility which is rarely reported.[23],[20] The reports suggest that due to the reduction and/or increase in gene number or simultaneous reduction and/or increase in gene copy number may be the reason for spermatogenic failure due to CNVs.[20]

   Genetic Organization And Recombination Mechanism Top

Several authors have reported that deletions in AZFc subregion cause spermatogenic defects.[24],[25] Further, clinical studies have revealed that approximately 60% of deletion in the AZFc.[26] The AZFc subregion is about 3.5 Mb in size with repeated DNA amplicons that has made this subregion prone to structural variation in men.[27] Amplicons in AZFc are arranged in sequence families, where intrafamily sequence identity is above 99.9%, which makes them essential for structural rearrangement.[27] These amplicons contain genes required for spermatogenesis.

The functional role of amplicons/palindromes is not fully known. The AZFc subregion comprises two full palindromes - P1 and P2 along with the distal ends of P3 which accounts for approximately 90% of the sequence.[16] Repping et al. in 2006 established the AZFc genetic diversity in the Yq chromosome.[28] In later years, it was noticed that AZFc rearrangement is one of the important motifs for structural variation in the Y chromosome. In the AZFc subregion, evidence suggests that at the sequence level, both homologous- and nonhomologous-dependent pathways take place. There are many reports which support NAHR in the AZFc subregion.[29],[30] Still, we have limited knowledge about the exact mechanism of NAHR at the sequence level. However, there are studies which showed activation of nonhomologous DNA end joining in AZFc.[31] Intrachromosomal homologous recombination is the major cause of genetic variability in AZFc. Lange et al. in 2009 have proposed the model for homologous recombination in palindromes where DNA double-strand break occurs within an amplicon which is frequent in male germ line.[32] The duplication in the AZFa subregion may disrupt the spermatogenesis process.[33] The studies associated with duplication analysis showed variation in outcome which may be due to the difference in geographical and ethnic population. The partial duplication was observed in oligozoospermia patients.[34] The duplication in the AZFc arises because of NAHR.[35]

   Deleted in Azoospermia-A Candidate Gene Top

Deletion in the DAZ gene family is a most frequent event, which accounts for 13% of cases in men with infertility.[36] DAZ gene was obtained from the autosomal homologue, DAZ-like which is represented as red amplicon [Figure 1]a in the AZFc subregion with a high frequency of deletion in azoospermia men.[13],[16] DAZ is present in multiple copies and organized in repeat cluster consist of four copies.[36] As the DAZ gene is expressed in almost all phases of germ cell development, it plays a variety of roles in the entire spermatogenesis process.[37] Deletion of the DAZ gene can involve many phenotypic variations from oligozoospermia to azoospermia as DAZ protein function in translation, control of meiosis, codes for RNA binding protein for germ cell, and maintain the primordial germ cell population.[16],[19]
Figure 1: Layout of azoospermia factor c subregion of the human Y-chromosome. (a) The amplicon structure with color code; protein-coding and noncoding gene families in the azoospermia factor c subregion. (b) Schematic picture of gr/gr deletion, b1/b3 deletion, b2/b3 deletion, and b2/b4 deletion

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   Partial Azoospermia Factor C Deletion Top

gr/gr deletion

A deletion of 1.6 Mb in Y chromosome is designated as gr/gr deletion, which was observed in infertile men with spermatogenic failure.[38] Deletion of gr/gr removes part of the AZFc subregion consists of one copy of the CDY1 gene and two copies of DAZ gene along with other transcriptional units [Figure 1]b.[36] It has been observed that the deletion in gr/gr and male infertility is dependent on ethnicity as well as a geographical region which should be considered as a risk factor in male with infertility.[34] Men with less sperm concentration, total sperm count, and total motility of sperm showed deletion for gr/gr when compared with individuals with no gr/gr deletion.[17] Gr/gr deletion arises due to the homologous recombination mechanism which is extensively studied in larger groups of fertile and infertile men in various parts of the world.[9]

b2/b3 deletion

The b2/b3 partial deletion in the AZFc subregion removes approximately 1.8 Mb, which is essential for spermatogenesis process.[39] Moreover, it has been observed that b2/b3 deletion is the bridge to genetic variability in the interval.[27] This deletion may occur due to gr/gr inversion or b2/b3 inversion.[15],[40] It has also been reported in Chinese men about the association between b2/b3 partial deletions with infertility in men.[41] Whereas in many other studies, predisposition was not reported in an infertile population.[29],[42]

b2/b4 deletion

b2/b4 deletion was reported first, which occurred due to recombination between b2 amplicon and b4 amplicon [16],[19],[43],[44] [Figure 1]b. This deletion span about 3.5 Mb which eliminate whole AZFc subregion.[45] b2/b4 deletion is well characterized and is associated with spermatogenic impairment.[16],[19] All the coding and noncoding gene families of the AZFc subregion were removed in b2/b4 deletion.[16],[46]

   Azoospermia Factor C Micro/partial Deletions Screening Using Different Approaches Top

If we consider all the genetic factors for male infertility, a study on microdeletions of the AZF region on the Y chromosome is of great importance as it has potential to transmit to the offspring. In previous studies by the European Academy of Andrology and the European Molecular Genetics Quality Network strongly recommended two sequence-tagged sites (STSs) for AZFc subregion (sY254 and sY255) which is specific to the DAZ gene in the P2 and P1 palindromes.[47],[48] In the past few years, the partial deletions in the AZFc subregion have been described which is considered to play an important role in male fertility.[45],[47],[48],[49] Deletion associated with b2/b4 pattern can be analyzed by sY160 STS marker.[16] The most widely used technique is simple STS-polymerase chain reaction (PCR), where a short sequence can be amplified using PCR. There are many studies where this technique is used for the detection of AZFc microdeletions.[47],[48] The conventional PCR method amplifies one single template, to reduce the time, cost, and labor, multiplex-PCR was introduced to overcome the disadvantage of simple PCR, where two or more DNA templates can be amplified simultaneously in a single reaction. Therefore, multiplex-PCR is now widely used for genetic screening of Y chromosome microdeletions.[50] Commercial kits are available from different makers such as Diachem/Bird, Euroclone, Promega 2.0, Qiagen, etc.[49] Bunyan et al. reported a method which is used for the detection of partial AZFc deletions using a Y chromosome-specific multiplex ligation-dependent probe amplification (MLPA) probemix (P360) known as MLPA assay.[51] A novel method known as universal primer-multiplex-PCR was adopted to overcome the disadvantage of conventional multiplex-PCR that is low specificity and sensitivity.[52] An alternative assay is the microassay technology, which has been introduced by Osborne et al. in 2007.[53] Hence, the improvement of the detection in relationship with Y chromosome microdeletions in various regions can help in identification of AZFc microdeletions in infertile men before undergoing assisted reproductive techniques and screening of oligozoospermic and azoospermic patients, sperm deposited in sperm bank, and population genetics research.

   Conclusion Top

Yq deletions and/or mutations are considered as one of the most powerful causes of male infertility which affects the genes involved in spermatogenesis. Y chromosome infertility is inherited to future generations in Y-linked style. The high rates of deletion in the AZFc subregion suggest that it might devote a substantial number of deleterious new mutations. Examination for Y chromosome deletions in different ethnic groups helps to understand the deletion patterns and the negative effect on infertility rates.


The authors express appreciation to Charutar Vidya Mandal and SICART, Vallabh Vidyanagar, Gujarat, for providing research work platform. We acknowledge Director, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, New Vallabh Vidyanagar, for all the facilities and constant encouragements to carry out this work. This work was supported by INSPIRE division of Department of Science and Technology, New Delhi, India, in a form of INSPIRE fellowship to Ms. Mili Nailwal.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J Assist Reprod Genet 2008;25:559-65.  Back to cited text no. 1
Nailwal M, Chauhan JB. In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility. Syst Biol Reprod Med 2017;63:248-58.  Back to cited text no. 2
de Kretser DM. Male infertility. Lancet 1997;349:787-90.  Back to cited text no. 3
Nailwal M, Chauhan JB. Azoospermia factor a (AZFa) sub-region of human Y-chromosome: A review. Meta Gene 2017b; 13:124-8.  Back to cited text no. 4
Nailwal M, Chauhan JB. Gene scanning for microdeletions in the azoospermia factor region of Y-chromosome in infertile men of Gujarat, India. J Clin Diagn Res 2017;11:GC01-6.  Back to cited text no. 5
Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C, et al. Male infertility: Role of genetic background. Reprod Biomed Online 2007;14:734-45.  Back to cited text no. 6
World Health Organization. WHO Laboratory Manual for the Examination and Processing of Human Semen. 5th ed. Cambridge: Cambridge University Press; 2010.  Back to cited text no. 7
Hackstein JH, Hochstenbach R, Pearson PL. Towards an understanding of the genetics of human male infertility: Lessons from flies. Trends Genet 2000;16:565-72.  Back to cited text no. 8
Tüttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility – A meta-analysis and literature review. Reprod Biomed Online 2007;15:643-58.  Back to cited text no. 9
Venables JP, Cooke HJ. Lessons from knockout and transgenic mice for infertility in men. J Endocrinol Invest 2000;23:584-91.  Back to cited text no. 10
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in yq11. Hum Mol Genet 1996;5:933-43.  Back to cited text no. 11
Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, et al. Aphysical map of the human Y chromosome. Nature 2001;409:943-5.  Back to cited text no. 12
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-37.  Back to cited text no. 13
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;35:247-51.  Back to cited text no. 14
Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH, et al. Alarge AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 2004;74:180-7.  Back to cited text no. 15
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001;29:279-86.  Back to cited text no. 16
Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE, Rozen S, et al. Ychromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod 2009;24:2667-73.  Back to cited text no. 17
Bansal SK, Jaiswal D, Gupta N, Singh K, Dada R, Sankhwar SN, et al. Gr/gr deletions on Y-chromosome correlate with male infertility: An original study, meta-analyses, and trial sequential analyses. Sci Rep 2016;6:19798.  Back to cited text no. 18
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-93.  Back to cited text no. 19
Lu C, Jiang J, Zhang R, Wang Y, Xu M, Qin Y, et al. Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment. Mol Hum Reprod 2014;20:836-43.  Back to cited text no. 20
Kim B, Lee Y, Kim Y, Lee KH, Chun S, Rhee K, et al. Polymorphic expression of DAZ proteins in the human testis. Hum Reprod 2009;24:1507-15.  Back to cited text no. 21
Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, et al. Polymorphisms associated with the DAZ genes on the human Y chromosome. Genomics 2005;86:431-8.  Back to cited text no. 22
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;20:2457-63.  Back to cited text no. 23
Sadeghi-Nejad H, Oates RD. The Y chromosome and male infertility. Curr Opin Urol 2008;18:628-32.  Back to cited text no. 24
Vogt PH. AZF deletions and Y chromosomal haplogroups: History and update based on sequence. Hum Reprod Update 2005;11:319-36.  Back to cited text no. 25
Simoni M, Tüttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: The extended münster experience. Reprod Biomed Online 2008;16:289-303.  Back to cited text no. 26
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;16:525-42.  Back to cited text no. 27
Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 2006;38:463-7.  Back to cited text no. 28
Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HW, de Kretser DM, et al. The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 2005;11:507-12.  Back to cited text no. 29
Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E, Quintana-Murci L, et al. Dynamic nature of the proximal AZFc region of the human Y chromosome: Multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat 2008;29:1171-80.  Back to cited text no. 30
Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ, et al. Massive deletion in AZFb/b+c and azoospermia with sertoli cell only and/or maturation arrest. Int J Androl 2008;31:573-8.  Back to cited text no. 31
Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 2009;138:855-69.  Back to cited text no. 32
Yang B, Ma YY, Liu YQ, Li L, Yang D, Tu WL, et al. Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination. Sci Rep 2015;5:10551.  Back to cited text no. 33
Stouffs K, Lissens W, Tournaye H, Haentjens P. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum Reprod Update 2011;17:197-209.  Back to cited text no. 34
Lupski JR, Stankiewicz P. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1:e49.  Back to cited text no. 35
Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J 2009;50:336-47.  Back to cited text no. 36
Reynolds N, Cooke HJ. Role of the DAZ genes in male fertility. Reprod Biomed Online 2005;10:72-80.  Back to cited text no. 37
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R. High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 2005;20:216-20.  Back to cited text no. 38
Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B, et al. The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet 2009;18:1122-30.  Back to cited text no. 39
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. Afamily of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-mb deletion in the azoospermia factor c region. Genomics 2004;83:1046-52.  Back to cited text no. 40
Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, et al. Afrequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 2007;22:1107-13.  Back to cited text no. 41
Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M, et al. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 2005;20:191-7.  Back to cited text no. 42
Tahmasbpour E, Balasubramanian D, Agarwal A. A multi-faceted approach to understanding male infertility: Gene mutations, molecular defects and assisted reproductive techniques (ART). J Assist Reprod Genet 2014;31:1115-37.  Back to cited text no. 43
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, et al. AZFc deletions and spermatogenic failure: A population-based survey of 20,000 Y chromosomes. Am J Hum Genet 2012;91:890-6.  Back to cited text no. 44
Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, et al. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 2005;42:209-13.  Back to cited text no. 45
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, et al. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 2000;67:256-67.  Back to cited text no. 46
Nailwal M, Chauhan J. Screening of Y-chromosome microdeletion in the AZFc sub-region of infertile men, Gujarat, India. IJBPAS 2016;5:2828-39.  Back to cited text no. 47
Sathyanarayana SH, Malini SS. Impact of Y chromosome AZFc subdeletion shows lower risk of fertility impairment in Siddi tribal men, Western Ghats, India. Basic Clin Androl 2015;25:1.  Back to cited text no. 48
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology, European Molecular Genetics Quality Network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State-of-the-art 2013. Andrology 2014;2:5-19.  Back to cited text no. 49
Alechine E, Corach D. High-throughput screening for spermatogenesis candidate genes in the AZFc region of the Y chromosome by multiplex real time PCR followed by high resolution melting analysis. PLoS One 2014;9:e97227.  Back to cited text no. 50
Bunyan DJ, Callaway JL, Laddach N. Detection of partial deletions of Y-chromosome AZFc in infertile men using the multiplex ligation-dependent probe amplification assay. J Reprod Infertil 2012;13:174-8.  Back to cited text no. 51
Zheng HY, Li Y, Shen FJ, Tong YQ. A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions. J Assist Reprod Genet 2014;31:613-20.  Back to cited text no. 52
Osborne EC, Lynch M, McLachlan R, Trounson AO, Cram DS. Microarray detection of Y chromosome deletions associated with male infertility. Reprod Biomed Online 2007;15:673-80.  Back to cited text no. 53


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