title: A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online.
abstract: We amplified 305bp of the 3'UT region of COL18A1 from 62 healthy chromosomes from Caucasian individuals. SSCP analysis of these PCR products allowed us to identify 3 alleles which were confirmed through sequencing analysis and ASO. The heterozigosity found for this polymorphic region is 74.2%, and mendelian inheritance was demonstrated in 5 two/three generation families. This polymorphism, located in a region relatively devoid of microsatellites, will be very useful for linkage analysis, particularly for narrowing down candidate regions for genes mapped in this area.
authors: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors: A L
authors: AL
authors: Sertié
authors: C
authors: C
authors: Brahe
authors: M R
authors: MR
authors: Passos-Bueno
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000483:Alleles; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D005819:Genetic Markers