A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online.
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.
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AL
Departamento de Biologia, Universidade de São Paulo, Brazil.
Brahe
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Passos-Bueno
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MR
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*
D020413:3' Untranslated Regions; D005819:Genetic Markers