title: Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia.
abstract: Oligodontia, sparse hair and deficiency of eccrine sweat glands are the features characteristic for the phenotype of the patients with anhidrotic ectodermal dysplasia (EDA). This syndrome is caused by mutations in the EDA or DL (downless) genes, encoding members of the TNF ligand and TNF receptor families, involved in the communication between the cells during embryonic life. We investigated both the coding and noncoding regions of the EDA and the DL genes in the patients exhibiting clinical symptoms of ectodermal dysplasia. Sequence analysis of the amplified fragments of the EDA gene revealed polymorphisms in introns three, four and five. The polymorphism in intron four was found in about 60% of the patients and was no more frequent than in the normal individuals. The two other polymorphisms were rare. Polymorphisms were also observed in exons 9 and 12 of the DL gene, but they did not alter the sequence of the protein product of the gene. Our results indicate that in order to accelerate screening for the mutations of the EDA gene and reduce the costs, the amplified fragments should not contain intronic sequences. However, in the case of the DL gene, where polymorphic sites are located in exons, restriction analysis with the use of appropriate enzyme should be conducted, but usually sequencing analysis could not be avoided.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznań, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Kobielak
authors.forename: K
authors.initials: K
authors.lastname: Kobielak
authors.forename: S A
authors.initials: SA
authors.lastname: Wiśniewski
authors.forename: A T
authors.initials: AT
authors.lastname: Midro
authors.forename: W H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins; D053339:Edar Receptor; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D053338:Receptors, Ectodysplasin; D018124:Receptors, Tumor Necrosis Factor; D017384:Sequence Deletion / Q000235:genetics
chemical_list: C506018:EDA protein, human; C506008:EDAR protein, human; D053331:Ectodysplasins; D053339:Edar Receptor; D008565:Membrane Proteins; D053338:Receptors, Ectodysplasin; D018124:Receptors, Tumor Necrosis Factor