Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection

Mau Chaio Jiang, Yih Ron Lien, Shee Uan Chen, Tsang Ming Ko, Hong Nerng Ho, Yu Shih Yang

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

Objective: To investigate the transmission of microdeletions in the deleted in azoospermia (DAZ) genes to a male offspring via intracytoplasmic sperm injection (ICSI). Design: Case report. Setting: Reproductive unit of a university teaching hospital. Patient(s): A 29-year-old, severely oligozoospermic male with microdeletions of the DAZ genes in Yq interval 6 and his son, who was conceived via ICSI. Intervention(s): DNA screening for the microdeletions in Yq interval 6 with 24 sequence tagged sites with the use of polymerase chain reaction amplification for the patient, the patient's father, and the patient's son. Paternity identification was performed using nine hypervariable short tandem repeats. Main Outcome Measure(s): Deletion mapping of Yq interval 6 from sequence tagged sites and electropherogram of short tandem repeats for DNA fingerprinting. Result(s): The son had the same microdeletions of the DAZ genes as the patient, and the patient's father had normal DAZ genes. The paternity of the patient, the patient's father, and the patient's son was verified. Conclusion(s): De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI. DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia.

Original languageEnglish
Pages (from-to)1029-1032
Number of pages4
JournalFertility and Sterility
Volume71
Issue number6
DOIs
Publication statusPublished - Jun 1 1999
Externally publishedYes

Fingerprint

Azoospermia
Intracytoplasmic Sperm Injections
Nuclear Family
Mutation
Genes
Sequence Tagged Sites
Fathers
Paternity
His-His-His-His-His-His
Microsatellite Repeats
N,N-dimethyl-3,3-diphenyl-1-methylallylamine
Oligospermia
DNA Fingerprinting
DNA
Genetic Counseling
Teaching Hospitals
Outcome Assessment (Health Care)
Polymerase Chain Reaction

Keywords

  • ICSI
  • Microdeletions in the DAZ genes
  • Oligozoospermia
  • Paternity identification

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. / Jiang, Mau Chaio; Lien, Yih Ron; Chen, Shee Uan; Ko, Tsang Ming; Ho, Hong Nerng; Yang, Yu Shih.

In: Fertility and Sterility, Vol. 71, No. 6, 01.06.1999, p. 1029-1032.

Research output: Contribution to journalArticle

Jiang, Mau Chaio ; Lien, Yih Ron ; Chen, Shee Uan ; Ko, Tsang Ming ; Ho, Hong Nerng ; Yang, Yu Shih. / Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. In: Fertility and Sterility. 1999 ; Vol. 71, No. 6. pp. 1029-1032.
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AB - Objective: To investigate the transmission of microdeletions in the deleted in azoospermia (DAZ) genes to a male offspring via intracytoplasmic sperm injection (ICSI). Design: Case report. Setting: Reproductive unit of a university teaching hospital. Patient(s): A 29-year-old, severely oligozoospermic male with microdeletions of the DAZ genes in Yq interval 6 and his son, who was conceived via ICSI. Intervention(s): DNA screening for the microdeletions in Yq interval 6 with 24 sequence tagged sites with the use of polymerase chain reaction amplification for the patient, the patient's father, and the patient's son. Paternity identification was performed using nine hypervariable short tandem repeats. Main Outcome Measure(s): Deletion mapping of Yq interval 6 from sequence tagged sites and electropherogram of short tandem repeats for DNA fingerprinting. Result(s): The son had the same microdeletions of the DAZ genes as the patient, and the patient's father had normal DAZ genes. The paternity of the patient, the patient's father, and the patient's son was verified. Conclusion(s): De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI. DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia.

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