A molecular study of heterozygous protein 4.1 deficiency in hereditary
elliptocytosis
S Lambert, J Conboy and S Zail
Department of Hematology, School of Pathology, University of Witwatersrand.
Genomic DNA from five kindreds and two individuals with hereditary
elliptocytosis [HE(4.1+)] and a partial deficiency of protein 4.1
[HE(4.1+)] was extracted and probed with a cDNA for protein 4.1. When using
a fragment of the cDNA that encompassed the coding region of the gene, two
restriction fragment length polymorphisms segregating with protein 4.1
deficiency were found in one kindred when using the enzymes BgIII and PvuII
but were not seen in the other HE(4.1+) subjects or in 20 random control
individuals. DNA digested with three other enzymes (HindIII, EcoRI, TaqI)
produced restriction patterns similar to controls. The unique BgIII and
PvuII polymorphisms probably reflect a rearrangement of the coding region
of the protein 4.1 gene as the underlying cause of the partial protein 4.1
deficiency in this family. A less likely possibility is that these
polymorphisms represent coincidental single base changes unrelated to the
primary gene defect.
Volume 72,
Issue 6,
pp. 1926-1929,
12/01/1988
Copyright © 1988 by The American Society of Hematology
