DINUCLEOTIDE REPEATS IN THE HUMAN SURFACTANT PROTEIN-B GENE AND RESPIRATORY-DISTRESS SYNDROME

被引:73
作者
FLOROS, J
VELETZA, SV
KOTIKALAPUDI, P
KRIZKOVA, L
KARINCH, AM
FRIEDMAN, C
BUCHTER, S
MARKS, K
机构
[1] METHODIST MED CTR,JACKSON,MS
[2] EMORY UNIV,SCH MED,ATLANTA,GA
关键词
D O I
10.1042/bj3050583
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Pulmonary surfactant, a lipoprotein complex, is essential for normal lung function, and deficiency of surfactant can result in respiratory-distress syndrome (RDS) in the prematurely born infant. Some studies have pointed towards a genetic contribution to the aetiology of RDS. Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS. We identified a 2.5 kb BamHI polymorphism and studied its location, nature and frequency. We localized this polymorphism in the first half of intron 4 and found that it is derived by gain or loss in the number of copies of a motif that consists of two elements, a 20 bp conserved sequence and a variable number of CA dinucleotides. Variability in the number of motifs resulting from either deletion (in 55.3% of the cases with the variation) or insertion (44.7%) of motifs was observed in genomic DNAs from unrelated individuals. Analysis of 219 genomic DNAs from infants with (n = 82) and without (n = 137) RDS showed that this insertion/deletion appears with significantly higher frequency in the RDS population (29.3 as against 16.8%, P < 0.05).
引用
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页码:583 / 590
页数:8
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