Characterization of markers flanking the human SP-B locus

Padma Kala, Michael Koptides, Susan Diangelo, Russell R. Hoover, Zhenwu Lin, Vouliana Veletza, Demetrios Kouretas, Joanna Floros

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

We have previously identified a SP-B length polymorphism that appears with higher frequency in the RDS population. This polymorphism encompasses a fairly large region, thus it is difficult to distinguish between variants with small size differences. Because of the importance of SP-B in normal lung function and the association of this S-B polymorphism with RDS, we wished to identify and characterize polymorphic markers linked to the SP-B locus that would allow better resolution of SP-B alleles. In this report we a) characterized a novel (AAGG)(n) linked SP-B microsatellite marker; b) determined linkage of published markers with the SP-B locus and also determined the distance of each marker from the SP-B locus using medium and high resolution radiation hybrid panels; c) determined heterozygosity index and PIC values of the novel and known markers in various populations; and d) determined haplotypes using CEPH families. The availability of these SP-B linked markers/haplotypes will facilitate population and family based association studies. We are hopeful that the information gained will help to unravel the genetic complexity of RDS and respiratory diseases with regards to the SP-B locus.

Original languageEnglish (US)
Pages (from-to)153-167
Number of pages15
JournalDisease Markers
Volume13
Issue number3
StatePublished - 1997

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Clinical Biochemistry
  • Biochemistry, medical

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