Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank

Monica D. Traystman, Nancy A. Schulte, Madeline MacDonald, James R. Anderson, Warren G Sanger

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Cystic fibrosis is the most common autosomal recessive disorder in Caucasian populations, with an approximate frequency of 1/2500 live births and a carrier frequency of 1/25. Due to the high rate of predicted carriers (>63,000) in the Nebraska population (1990 U.S. Census = 1,578,358), we analyzed sperm DNA obtained from semen donors at the University of Nebraska Genetic Semen Bank for eight of the more common mutations to determine the frequency and diversity in our population. The subjects included 167 semen donors (31 normal healthy donors, 56 infertility patients, 21 prevasectomy patients, and 59 prechemotherapy or preradiation cancer patients). The mutations analyzed included ΔF508, Rl17H, G542X, S549R/N, G55 1D, R553X, R560T, and W1282X. Analyses were performed using PCR amplified products that were analyzed using polyacrylamide gel electrophoresis, slot blot, and restriction endonuclease digestion. These results were correlated with results from the clinical semen analyses and selected clinical parameters. Results for the total donor population studied showed that the ΔF508 mutation was present in8/167 (4.8%) donors, the R117H mutation was present in 4/167 (2.4%) donors and the G542X mutation was present in 1/167 (0.6%) donors. The observed number of carriers from this population, 13/167 (7.8%), was significantly greater (P = 0.02) than that expected assuming a carrier frequency of 1/25. The excess of carriers was restricted to the subgroup of infertility patients. This suggests that CF carriers may be at higher risk for infertility than the general population. © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)271-275
Number of pages5
JournalHuman mutation
Volume4
Issue number4
DOIs
StatePublished - Jan 1 1994

Fingerprint

Semen
Cystic Fibrosis
Spermatozoa
Tissue Donors
Mutation
Infertility
Population
Semen Analysis
DNA Restriction Enzymes
Live Birth
Censuses
Polyacrylamide Gel Electrophoresis
Digestion
Polymerase Chain Reaction
DNA
Neoplasms

Keywords

  • Autosomal recessive disease
  • Cystic fibrosis
  • Genetic semen analysis
  • Mutation analysis
  • Semen bank screening

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank. / Traystman, Monica D.; Schulte, Nancy A.; MacDonald, Madeline; Anderson, James R.; Sanger, Warren G.

In: Human mutation, Vol. 4, No. 4, 01.01.1994, p. 271-275.

Research output: Contribution to journalArticle

Traystman, Monica D. ; Schulte, Nancy A. ; MacDonald, Madeline ; Anderson, James R. ; Sanger, Warren G. / Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank. In: Human mutation. 1994 ; Vol. 4, No. 4. pp. 271-275.
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abstract = "Cystic fibrosis is the most common autosomal recessive disorder in Caucasian populations, with an approximate frequency of 1/2500 live births and a carrier frequency of 1/25. Due to the high rate of predicted carriers (>63,000) in the Nebraska population (1990 U.S. Census = 1,578,358), we analyzed sperm DNA obtained from semen donors at the University of Nebraska Genetic Semen Bank for eight of the more common mutations to determine the frequency and diversity in our population. The subjects included 167 semen donors (31 normal healthy donors, 56 infertility patients, 21 prevasectomy patients, and 59 prechemotherapy or preradiation cancer patients). The mutations analyzed included ΔF508, Rl17H, G542X, S549R/N, G55 1D, R553X, R560T, and W1282X. Analyses were performed using PCR amplified products that were analyzed using polyacrylamide gel electrophoresis, slot blot, and restriction endonuclease digestion. These results were correlated with results from the clinical semen analyses and selected clinical parameters. Results for the total donor population studied showed that the ΔF508 mutation was present in8/167 (4.8{\%}) donors, the R117H mutation was present in 4/167 (2.4{\%}) donors and the G542X mutation was present in 1/167 (0.6{\%}) donors. The observed number of carriers from this population, 13/167 (7.8{\%}), was significantly greater (P = 0.02) than that expected assuming a carrier frequency of 1/25. The excess of carriers was restricted to the subgroup of infertility patients. This suggests that CF carriers may be at higher risk for infertility than the general population. {\circledC} 1994 Wiley‐Liss, Inc.",
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