Two RFLPs in the human protein 4.1 gene (EL1)

Abstract

Source/Description: pTM-1 (1) and pLym (2) are two cDNA clones containing a 1 kb and 2.7 kb EcoRI inserts of the protein 4.1 gene which were isolated from a human T cell leukemia cDNA library. Polymorphism: Two allele co-dominant polymorphisms identified with HindIH (Al = 4.5 kb, A2 = 4.0 kb) by the pTM-1 clone and with BglII (BI = 22 kb, B2 = 17 kb) by the pLym clone. Frequency: Studied in 16 (A allele) and 23 (B allele) unrelated Chinese. Al: 0.44 A2: 0.56 Bi: 0.24 B2: 0.76 Not Polymorphic For: PvuII, EcoRI, BamHI Chromosome Localization: Assigned to chromosome lp33-lp34.2 by non-radioactive in situ hybridization (3). Mendelian Inheritance: Co-dominant segregation shown in three families, 20 individuals (A allele) and one family, 9 individuals (B allele). Probe Availability: Available from Dr T.K.Tang. Other Comments: The co-dominant segregation of HindH polymorphism was also observed in a large white family (4).

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

“…In the French population, it was found to be associated with five different haplotypes involving the following polymorphic sites-Pvu II, Bgl II, Bgl II, Pvu II, Pvu II-that have been tentatively aligned in this order (18). A Hind III polymorphism was described in the Chinese population ( 19).…”