Article
PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.
American journal of human genetics - 1 Apr 1997
Grody W W, Dunkel-Schetter C, Tatsugawa Z H, Fox M A, Fang C Y, Cantor R M, Novak J M, Bass H N, Crandall B F
Abstract excerpt
As the most common lethal autosomal recessive disorder in North America, cystic fibrosis (CF) is an obvious candidate for general population carrier screening. Although the identification of the causative gene has made detection of asymptomatic carriers possible, the extreme heterogeneity of its...
Topics
- Academic Medical Centers
- Adolescent
- Adult
- California
- Cystic Fibrosis
- Demography
- Ethnicity
- Female
- Follow-Up Studies
- Gene Frequency
- Genetic Counseling
- Genetic Testing
- Health Maintenance Organizations
- Heterozygote
- Humans
- Informed Consent
- Knowledge
- Mutation