Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions
Received date: 2018-10-09
Revised date: 2018-12-25
Online published: 2019-01-14
Supported by
Supported by Science and Technology Planning Project of Guangdong Province(2016A20214011)
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-DYS389I-DYS389II 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.
Yanchao Wang,Xiaoyan Ma,Xiaofang Sun,Jiajia Xian,Shaoying Li,Wenzhi He,Xiaoman Wang,Qing Li . Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions[J]. Hereditas(Beijing), 2019 , 41(3) : 243 -253 . DOI: 10.16288/j.yczz.18-235
| [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 ,The 1000 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. |
| [3] | 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, Köhn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Gröne 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 . Y chromosome 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. J Endocrinol 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] |