Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure

YungMing Lin, Ying Hung Lin, Yen Ni Teng, Chao Chin Hsu, Johnny Shinn-Nan Lin, Pao-Lin Kuo

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Objective: To develop a simple and rapid protocol for detecting deletions of the Y chromosome and to evaluate the feasibility of gene-based screening in men with spermatogenic failure. Design: Prospective case study. Setting: University-based reproductive clinics and genetics laboratory. Patient(s): Two hundred two infertile men presenting with severe oligozoospermia and nonobstructive azoospermia. Intervention(s): Fifteen gene-specific primers were used to detect deletions of Y chromosome genes in men with spermatogenic failure. A multiplex polymerase chain reaction amplification system was developed to facilitate rapid screening. Another 24 markers for sequence-tagged sites (STS) were used to ensure the adequacy of gene-based screening. Main Outcome Measure(s): Detection of deletions of Y chromosome genes. Result(s): Of 180 patients evaluated, 19 (10.6%) had deletions of one or more genes, including DFFRY, DBY, RBM1, DAZ, CDY1, and BPY2. A second round of STS-based screenings did not show an increase in the deletion rate but more clearly defined the extent of deletion in 14 of the 19 patients. In most patients, deletions detected by gene-based screening were similar to those detected by STS markers. Conclusion(s): Gene-based screening with multiplex polymerase chain reaction is a rational alternative for detecting deletions of Y chromosome genes in infertile men.

Original languageEnglish
Pages (from-to)897-903
Number of pages7
JournalFertility and Sterility
Volume77
Issue number5
DOIs
Publication statusPublished - 2002 May 21

Fingerprint

Y-Linked Genes
Sequence Tagged Sites
Genes
Multiplex Polymerase Chain Reaction
Oligospermia
Gene Deletion
Outcome Assessment (Health Care)
Male sterility due to Y-chromosome deletions
Prospective Studies

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynaecology

Cite this

Lin, YungMing ; Lin, Ying Hung ; Teng, Yen Ni ; Hsu, Chao Chin ; Shinn-Nan Lin, Johnny ; Kuo, Pao-Lin. / Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure. In: Fertility and Sterility. 2002 ; Vol. 77, No. 5. pp. 897-903.
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Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure. / Lin, YungMing; Lin, Ying Hung; Teng, Yen Ni; Hsu, Chao Chin; Shinn-Nan Lin, Johnny; Kuo, Pao-Lin.

In: Fertility and Sterility, Vol. 77, No. 5, 21.05.2002, p. 897-903.

Research output: Contribution to journalArticle

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