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Pediatrics. 2000 Mar;105(3 Pt 1):538-41.

Population-based estimates of surfactant protein B deficiency.

Author information

1
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA. cole@kids.wustl.edu

Abstract

OBJECTIVE:

Surfactant protein B deficiency is a lethal cause of respiratory distress in infancy that results most commonly from a homozygous frameshift mutation (121ins2). Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency.

STUDY DESIGN:

Using clinical characteristics of the phenotype of affected infants, we screened the Missouri linked birth-death database (n = 1 052 544) to ascertain potentially affected infants. We used molecular amplification and restriction enzyme digestion of DNA samples from a metropolitan New York birth cohort (n = 6599) to estimate allele frequency.

RESULTS:

The point estimate and 95% confidence interval of the 121ins2 allele frequency in the Missouri cohort are 1/1000 individuals (.03-5.6/1000) and in the New York cohort are.15/1000 (. 08-.25/1000). These estimates are not statistically different.

CONCLUSIONS:

The close approximation of these independent estimates suggests accurate gene frequency (approximately one 121ins2 mutation per 1000-3000 individuals) despite its rare occurrence and that this mutation does not account for the majority of full-term infants with lethal respiratory distress.

PMID:
10699106
[Indexed for MEDLINE]

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