Application value of azoospermia factor microdeletion extended detection method in two special cases with abnormal sex chromosome copy numbers
10.3760/cma.j.cn101441-20200720-00402
- VernacularTitle:无精子症因子微缺失拓展检测方法在2例性染色体拷贝数异常患者中的应用价值
- Author:
Zhanqi FENG
1
;
Liangjie GUO
;
Junxiang SU
;
Zhian JING
;
Yongle LI
;
Hongyan LIU
;
Hongdan WANG
Author Information
1. 郑州市第一人民医院泌尿外科，郑州 450004
- Publication Type:Journal Article
- Keywords:
Y chromosome microdeletions;
Male infertility;
Capillary electrophoresis;
Sex chromosome abnormalities
- From:
Chinese Journal of Reproduction and Contraception
2022;42(2):177-182
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.
