Y染色体微缺失人群中Y-STR等位基因缺失模式分析
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摘要
Y染色体短串联重复序列(Y-short tandem repeats, Y-STRs)已被广泛应用到DNA检验领域。然而,由于Y染色体存在较高的结构突变率,可能会导致部分Y-STR等位基因丢失甚至产生特殊的缺失模式,从而影响其在法医学中的应用。位于Y染色体长臂的无精子症因子(azoospermia factor, AZF)与精子发生有关,该区域微缺失可导致不育症。然而Y染色体微缺失人群是否存在特殊的Y-STR缺失模式仍有待研究。本文利用法医学上常用17个Y-STR探讨了85例Y染色体微缺失患者的Y-STR缺失模式。结果显示,单纯AZF a区缺失样本,均存在DYS439-DYS389I-DYS389II基因座无效扩增情况;单纯AZF b区或单纯AZF c区缺失样本存在DYS448基因座无效扩增;复合AZF b+c+d区缺失样本存在DYS385-DYS392-DYS448基因座无效扩增;复合AZFa+b+c+d区缺失样本存在DYS390-Y-GATA-H4-DYS385-DYS392-DYS448基因座无效扩增。因此,本研究结果提示Y-STR缺失模式与Y染色体微缺失有对应关系。
Y chromosomal short tandem repeat(Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor(AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions. In this study, 85 infertile males with Y chromosome interstitial deletion were identified and special Y-STR allele dropout patterns were analyzed by employing a Y-STR Commercial Kit and a Y chromosome Deletion Kit. Results demonstrate that AZF a region deletion are related to DYS439-DYS389 I-DYS389 II alleles dropout, while AZF b region or c region deletions correlate to DYS448 allele dropout. Null DYS385-DYS392-DYS448 alleles were observed in AZF b+c+d region deletion individuals. While null DYS390-Y-GATA-H4-DYS385-DYS392-DYS448 alleles were observed in AZF a+b+c+d large region deletion individuals. Our data suggest that Y chromosome microdeletions may indicate specific Y-STR locus dropout patterns.
Y chromosomal short tandem repeat(Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor(AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions. In this study, 85 infertile males with Y chromosome interstitial deletion were identified and special Y-STR allele dropout patterns were analyzed by employing a Y-STR Commercial Kit and a Y chromosome Deletion Kit. Results demonstrate that AZF a region deletion are related to DYS439-DYS389 I-DYS389 II alleles dropout, while AZF b region or c region deletions correlate to DYS448 allele dropout. Null DYS385-DYS392-DYS448 alleles were observed in AZF b+c+d region deletion individuals. While null DYS390-Y-GATA-H4-DYS385-DYS392-DYS448 alleles were observed in AZF a+b+c+d large region deletion individuals. Our data suggest that Y chromosome microdeletions may indicate specific Y-STR locus dropout patterns.
引文
[1]Kayser M.Forensic use of Y-chromosome DNA:a general overview.Hum Genet,2017,136(5):621-635.
[2]Willems T,Gymrek M,Poznik GD,Tyler-Smith C,The1000 Genomes Project Chromosome Y Group,Erlich Y.Population-Scale sequencing data enable precise estimates of Y-STR mutation rates.Am J Hum Genet,2016,98(5):919-933.
[3]Liu H.Establishment of fluorescence labeled 24 Y-STRs loci multiplex PCR system and its application in forensic medicine(thesis)[D].Southern Medical University,2012.刘宏.24个Y-STR基因座荧光标记复合检测体系的建立及其法医学应用[学位论文].南方医科大学,2012.
[4]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):119-124.
[5]Liu XG,Hu HY,Guo YH,Sun YP.Correlation between Y chromosome microdeletion and male infertility.Genet Mol Res,2016,15(2).
[6]Vogt PH,Edelmann A,Kirsch S,Henegariu O,Hirschmann P,Kiesewetter F,K?hn FM,Schill WB,Farah S,Ramos C,Hartmann M,Hartschuh W,Meschede D,Behre HM,Castel A,Nieschlag E,Weidner W,Gr?ne HJ,Jung A,Engel W,Haidl G.Human Y chromosome azoospermia factors(AZF)mapped to different subregions in Yq11.Hum Mol Genet,1996,5(7):933-943.
[7]Kent-First M,Muallem A,Shultz J,Pryor J,Roberts K,Nolten W,Meisner L,Chandley A,Gouchy G,Jorgensen L,Havighurst T,Grosch J.Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region(AZFd)by Y-chromosome microdeletion detection.Mol Reprod Dev,1999,53(1):27-41.
[8]Ataei M,Akbarian F,Talebi MA,Dolati P,Mobaraki M,Faraji A,Houshmand M.Analysis of partial AZFc(gr/gr,b1/b3,and b2/b3)deletions in Iranian oligozoospermia candidates for intracytoplasmic sperm injection(ICSI).Turk J Med Sci,2018,48(2):251-256.
[9]Sen S,Pasi AR,Dada R,Shamsi MB,Modi D.Ychromosome microdeletions in infertile men:Prevalence,phenotypes and screening markers for the Indian population.J Assist Reprod Gen,2013,30(3):413-422.
[10]Foresta C,Moro E,Rossi A,Rossato M,Garolla A,Ferlin A.Role of the AZFa candidate genes in male infertility.JEndocrinol Invest,2000,23(10):646-651.
[11]Sen S,Ambulkar P,Hinduja I,Zaveri K,Gokral J,Pal A,Modi D.Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Gen,2015,32(9):1333-1341.
[12]Liu XY,Wang RX,Fu Y,Luo LL,Guo W,Liu RZ.Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions.Andrologia,2017,49(1):e12602
[13]Zhang YS,Li LL,Xue LT,Zhang H,Zhu YY,Liu RZ.Complete azoospermia factor b deletion of Y chromosome in an infertile male with severe oligoasthenozoospermia:Case report and literature review.Urology,2017,102:111-115.
[14]Liu XH,Qiao J,Li R,Yan LY,Chen LX.Y chromosome AZFc microdeletion may not affect the outcomes of ICSIfor infertile males with fresh ejaculated sperm.J Assist Reprod Gen,2013,30(6):813-819.
[15]Fu L,Xiong DK,Ding XP,Li C,Zhang LY,Ding M,Nie SS,Quan Q.Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.J Assist Reprod Gen,2012,29(6):521-527.
[16]Nakahori Y,Takenaka O,Nakagome Y.A human X-Yhomologous region encodes"amelogenin".Genomics,1991,9(2):264-269.
[17]Sullivan KM,Mannucci A,Kimpton CP,Gill P.A rapid and quantitative DNA sex test:fluorescence-based PCRanalysis of X-Y homologous gene amelogenin.Biotechniques,1993,15(4):636-638,640-641.
[18]Ye JJ,Li ZF,Chen YX,Ma L,Li M,Wang YL,Yang LJ,Chen BW.Analysis of null alleles for 17 Y chromosomeshort tandem repeat loci in infertile males.Chin J Med Gene,2013,30(3):330-334.叶峻杰,李宗芳,陈燕祥,马丽,李貌,郭海,王跃力,杨丽娟,程宝文.男性不育人群17个Y染色体短串联重复基因座无效等位基因分析.中华医学遗传学杂志,2013,30(3):330-334.
[19]Wang YL,Ye JJ,Li ZF,Zheng S,Ma L,Guo H,Yang LJ,Chen BW.Identification of null and duplicated alleles for forensic DYS549,DYS527 and DYS459 in male infertility population.Hereditas(Beijing),2014,36(8):786-792.王跃力,叶峻杰,李宗芳,郑水,马丽,郭海,杨丽娟,程宝文.对法医学相关的DYS549?DYS527?DYS459基因座在男性不育症人群中的缺失?重复调查.遗传,2014,36(8):786-792.
[20]Ma Y,Kuang JZ,Zhang J,Wang GM,Wang YJ,Jin WM,Hou YP.Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.Int J Legal Med,2012,126(5):713-724.
[21]Takayama T,Takada N,Suzuki R,Nagaoka S,Watanabe Y,Kumagai R,Aoki Y,Butler JM.Determination of deleted regions from Yp11.2 of an amelogenin negative male.Legal Med-Tokyo,2009,11(Suppl.1):S578-S580.
[22]Davis C,Illescas M,Tirado C,Lopez R,Budowle B,Cruz TD.A case of amelogenin Y-null:a simple primer binding site mutation or unusual genetic anomaly?Leg Med,2012,146):320-323.
[23]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(1):05-19
[24]Shang L,Mo XT,Yang F,Zhang J,Yu ZL,Ma X,Zhao XC,Li WS.Progress towards forensic research and application of Multi-copied Y-STR loci.Foren Sci Technol,2018,43(2):97-103.尚蕾,莫晓婷,杨帆,张建,余政梁,马新,赵兴春,李万水.多拷贝Y-STR基因座在法庭科学领域的研究.刑事技术.2018,43(2):97-103.
[25]Yannic G,Basset P,Hausser J.A new perspective on the evolutionary history of western European Sorex araneus group revealed by paternal and maternal molecular markers.Mol Phylogenet Evol,2008,47(1):237-250.
[26]Zhang WQ,Liu YX,Huang DX.Y-STR mutation and forensic application of rapidly mutating Y-STRs.Chin JFore Medi,2015,30(4):380-383.张文琼,刘宇轩,黄代新.Y-STR突变及快速突变Y-STR的法医学应用价值.中国法医学杂志,2015,30(4):380-383.
[27]Ballantyne KN,Keerl V,Wollstein A,Choi Y,Zuniga SB,Ralf A,Vermeulen M,de Knijff P,Kayser M.A new future of forensic Y-chromosome analysis:Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages.Forensic Sci Int-Gen,2012,6(2):208-218.
[28]Repping S,Skaletsky H,Lange J,Silber S,Van Der Veen F,Oates RD,Page DC,Rozen S.Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.Am JHum Genet,2002,71(4):906-922.
[29]Yang Y,Zhang SZ,Y chromosome variations and male infertility.Chin J Med Genet,2010,27(3):276-281.杨元,张思仲.Y染色体变异与男性不育.中华医学遗传学杂志,2010,27(3):276-281.
[30]Ballantyne KN,Goedbloed M,Fang R,Schaap O,Lao O,Wollstein A,Choi Y,van Duijn K,Vermeulen M,Brauer S,Decorte R,Poetsch M,von Wurmb-Schwark N,de Knijff P,Labuda D,Vézina H,Knoblauch H,Lessig R,Roewer L,Ploski R,Dobosz T,Henke L,Henke J,Furtado MR,Kayser M.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications.Am J Hum Genet,2010,87(3):341-353.
[31]Goedbloed M,Vermeulen M,Fang RN,Lembring M,Wollstein A,Ballantyne K,Lao O,Brauer S,Krüger C,Roewer L,Lessig R,Ploski R,Dobosz T,Henke L,Henke J,Furtado MR,Kayser M.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCRamplification kit.Int J Legal Med,2009,123(6):471-482.
[32]Colaco S,Modi D.Genetics of the human Y chromosome and its association with male infertility.Reprod Biol Endocrin,2018,16(1):14.
[33]Sen S,Ambulkar P,Hinduja I,Zaveri K,Gokral J,Pal A,Modi D.Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Genet,2015,32(9):1333-1341.
[34]Zhang YS,Li LL,Xue LT,Zhang H,Zhu YY,Liu RZ.Complete Azoospermia Factor b deletion of Y chromosome in an infertile male with severe oligoasthenozoospermia:case report and literature review.Urology,2017,102:111-115.
[35]Yousefi-Razin E,Nasiri MJ,Omrani MD.Frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia:a meta-analysis.J Reprod Infertil,2016,17(4):208-212.
[36]Zhang YS,Dai RL,Wang RX,Zhang HG,Chen S,Liu RZ.Analysis of y chromosome microdeletion in 1738 infertile men from Northeastern China.Urology,2013,83(3):584-588.
[37]Ak?nsal EC,Baydilli N,Dündar M,Ekmek?io?lu O.The frequencies of Y chromosome microdeletions in infertile males.Turk J Urol,2018,44(5):389-392.
[38]Balaresque P,Bowden GR,Parkin EJ,Omran GA,Heyer E,Quintana-Murci L,Roewer L,Stoneking M,Nasidze I,Carvalho-Silva DR,Tyler-Smith C,de Knijff P,Jobling MA.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(10):1171-1180.
[39]Turrina S,Caratti S,Ferrian M,De Leo D.Deletion and duplication at DYS448 and DYS626 loci:unexpected patterns within the AZFc region of the Y-chromosome.Int J Legal Med,2015,129(3):449-455.
[40]Chang YM,Perumal R,Keat PY,Yong RY,Kuehn DL,Burgoyne L.A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Y(p)11.2(DYS458-MSY1-AMEL-Y)deletion.Forensic Sci Int,2007,166(2-3):115-120.
[41]Ou X,Chen W,Chen H,Zhao F,Zheng J,Tong D,Chen Y,Chen A,Sun H.Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population.Int J Legal Med,2012,126(4):513-518.
[2]Willems T,Gymrek M,Poznik GD,Tyler-Smith C,The1000 Genomes Project Chromosome Y Group,Erlich Y.Population-Scale sequencing data enable precise estimates of Y-STR mutation rates.Am J Hum Genet,2016,98(5):919-933.
[3]Liu H.Establishment of fluorescence labeled 24 Y-STRs loci multiplex PCR system and its application in forensic medicine(thesis)[D].Southern Medical University,2012.刘宏.24个Y-STR基因座荧光标记复合检测体系的建立及其法医学应用[学位论文].南方医科大学,2012.
[4]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):119-124.
[5]Liu XG,Hu HY,Guo YH,Sun YP.Correlation between Y chromosome microdeletion and male infertility.Genet Mol Res,2016,15(2).
[6]Vogt PH,Edelmann A,Kirsch S,Henegariu O,Hirschmann P,Kiesewetter F,K?hn FM,Schill WB,Farah S,Ramos C,Hartmann M,Hartschuh W,Meschede D,Behre HM,Castel A,Nieschlag E,Weidner W,Gr?ne HJ,Jung A,Engel W,Haidl G.Human Y chromosome azoospermia factors(AZF)mapped to different subregions in Yq11.Hum Mol Genet,1996,5(7):933-943.
[7]Kent-First M,Muallem A,Shultz J,Pryor J,Roberts K,Nolten W,Meisner L,Chandley A,Gouchy G,Jorgensen L,Havighurst T,Grosch J.Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region(AZFd)by Y-chromosome microdeletion detection.Mol Reprod Dev,1999,53(1):27-41.
[8]Ataei M,Akbarian F,Talebi MA,Dolati P,Mobaraki M,Faraji A,Houshmand M.Analysis of partial AZFc(gr/gr,b1/b3,and b2/b3)deletions in Iranian oligozoospermia candidates for intracytoplasmic sperm injection(ICSI).Turk J Med Sci,2018,48(2):251-256.
[9]Sen S,Pasi AR,Dada R,Shamsi MB,Modi D.Ychromosome microdeletions in infertile men:Prevalence,phenotypes and screening markers for the Indian population.J Assist Reprod Gen,2013,30(3):413-422.
[10]Foresta C,Moro E,Rossi A,Rossato M,Garolla A,Ferlin A.Role of the AZFa candidate genes in male infertility.JEndocrinol Invest,2000,23(10):646-651.
[11]Sen S,Ambulkar P,Hinduja I,Zaveri K,Gokral J,Pal A,Modi D.Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Gen,2015,32(9):1333-1341.
[12]Liu XY,Wang RX,Fu Y,Luo LL,Guo W,Liu RZ.Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions.Andrologia,2017,49(1):e12602
[13]Zhang YS,Li LL,Xue LT,Zhang H,Zhu YY,Liu RZ.Complete azoospermia factor b deletion of Y chromosome in an infertile male with severe oligoasthenozoospermia:Case report and literature review.Urology,2017,102:111-115.
[14]Liu XH,Qiao J,Li R,Yan LY,Chen LX.Y chromosome AZFc microdeletion may not affect the outcomes of ICSIfor infertile males with fresh ejaculated sperm.J Assist Reprod Gen,2013,30(6):813-819.
[15]Fu L,Xiong DK,Ding XP,Li C,Zhang LY,Ding M,Nie SS,Quan Q.Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.J Assist Reprod Gen,2012,29(6):521-527.
[16]Nakahori Y,Takenaka O,Nakagome Y.A human X-Yhomologous region encodes"amelogenin".Genomics,1991,9(2):264-269.
[17]Sullivan KM,Mannucci A,Kimpton CP,Gill P.A rapid and quantitative DNA sex test:fluorescence-based PCRanalysis of X-Y homologous gene amelogenin.Biotechniques,1993,15(4):636-638,640-641.
[18]Ye JJ,Li ZF,Chen YX,Ma L,Li M,Wang YL,Yang LJ,Chen BW.Analysis of null alleles for 17 Y chromosomeshort tandem repeat loci in infertile males.Chin J Med Gene,2013,30(3):330-334.叶峻杰,李宗芳,陈燕祥,马丽,李貌,郭海,王跃力,杨丽娟,程宝文.男性不育人群17个Y染色体短串联重复基因座无效等位基因分析.中华医学遗传学杂志,2013,30(3):330-334.
[19]Wang YL,Ye JJ,Li ZF,Zheng S,Ma L,Guo H,Yang LJ,Chen BW.Identification of null and duplicated alleles for forensic DYS549,DYS527 and DYS459 in male infertility population.Hereditas(Beijing),2014,36(8):786-792.王跃力,叶峻杰,李宗芳,郑水,马丽,郭海,杨丽娟,程宝文.对法医学相关的DYS549?DYS527?DYS459基因座在男性不育症人群中的缺失?重复调查.遗传,2014,36(8):786-792.
[20]Ma Y,Kuang JZ,Zhang J,Wang GM,Wang YJ,Jin WM,Hou YP.Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.Int J Legal Med,2012,126(5):713-724.
[21]Takayama T,Takada N,Suzuki R,Nagaoka S,Watanabe Y,Kumagai R,Aoki Y,Butler JM.Determination of deleted regions from Yp11.2 of an amelogenin negative male.Legal Med-Tokyo,2009,11(Suppl.1):S578-S580.
[22]Davis C,Illescas M,Tirado C,Lopez R,Budowle B,Cruz TD.A case of amelogenin Y-null:a simple primer binding site mutation or unusual genetic anomaly?Leg Med,2012,146):320-323.
[23]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(1):05-19
[24]Shang L,Mo XT,Yang F,Zhang J,Yu ZL,Ma X,Zhao XC,Li WS.Progress towards forensic research and application of Multi-copied Y-STR loci.Foren Sci Technol,2018,43(2):97-103.尚蕾,莫晓婷,杨帆,张建,余政梁,马新,赵兴春,李万水.多拷贝Y-STR基因座在法庭科学领域的研究.刑事技术.2018,43(2):97-103.
[25]Yannic G,Basset P,Hausser J.A new perspective on the evolutionary history of western European Sorex araneus group revealed by paternal and maternal molecular markers.Mol Phylogenet Evol,2008,47(1):237-250.
[26]Zhang WQ,Liu YX,Huang DX.Y-STR mutation and forensic application of rapidly mutating Y-STRs.Chin JFore Medi,2015,30(4):380-383.张文琼,刘宇轩,黄代新.Y-STR突变及快速突变Y-STR的法医学应用价值.中国法医学杂志,2015,30(4):380-383.
[27]Ballantyne KN,Keerl V,Wollstein A,Choi Y,Zuniga SB,Ralf A,Vermeulen M,de Knijff P,Kayser M.A new future of forensic Y-chromosome analysis:Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages.Forensic Sci Int-Gen,2012,6(2):208-218.
[28]Repping S,Skaletsky H,Lange J,Silber S,Van Der Veen F,Oates RD,Page DC,Rozen S.Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.Am JHum Genet,2002,71(4):906-922.
[29]Yang Y,Zhang SZ,Y chromosome variations and male infertility.Chin J Med Genet,2010,27(3):276-281.杨元,张思仲.Y染色体变异与男性不育.中华医学遗传学杂志,2010,27(3):276-281.
[30]Ballantyne KN,Goedbloed M,Fang R,Schaap O,Lao O,Wollstein A,Choi Y,van Duijn K,Vermeulen M,Brauer S,Decorte R,Poetsch M,von Wurmb-Schwark N,de Knijff P,Labuda D,Vézina H,Knoblauch H,Lessig R,Roewer L,Ploski R,Dobosz T,Henke L,Henke J,Furtado MR,Kayser M.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications.Am J Hum Genet,2010,87(3):341-353.
[31]Goedbloed M,Vermeulen M,Fang RN,Lembring M,Wollstein A,Ballantyne K,Lao O,Brauer S,Krüger C,Roewer L,Lessig R,Ploski R,Dobosz T,Henke L,Henke J,Furtado MR,Kayser M.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCRamplification kit.Int J Legal Med,2009,123(6):471-482.
[32]Colaco S,Modi D.Genetics of the human Y chromosome and its association with male infertility.Reprod Biol Endocrin,2018,16(1):14.
[33]Sen S,Ambulkar P,Hinduja I,Zaveri K,Gokral J,Pal A,Modi D.Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Genet,2015,32(9):1333-1341.
[34]Zhang YS,Li LL,Xue LT,Zhang H,Zhu YY,Liu RZ.Complete Azoospermia Factor b deletion of Y chromosome in an infertile male with severe oligoasthenozoospermia:case report and literature review.Urology,2017,102:111-115.
[35]Yousefi-Razin E,Nasiri MJ,Omrani MD.Frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia:a meta-analysis.J Reprod Infertil,2016,17(4):208-212.
[36]Zhang YS,Dai RL,Wang RX,Zhang HG,Chen S,Liu RZ.Analysis of y chromosome microdeletion in 1738 infertile men from Northeastern China.Urology,2013,83(3):584-588.
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