title: [AFBN1 gene in patients with Marfan syndrome].
abstract: 30 exons have been analyzed using SSCP in patients with MFS or related phenotypes. We report 2 missense mutations occur in calcium-binding Epidermal Growth Factor-like (EGFcb) domains and 9 polymorphisms located both in coding and noncoding regions of FBN1 gene. Three intragenic microsatellite polymorphic markers MTS-1, MTS-2 and MTS-4 have been analyzed in patients with MFS and unrelated unaffected control individuals. We found significant differences in allele frequency distribution of MTS-2 and MTS-4 loci between MFS patients and unaffected individuals. Haplotype frequency distribution on normal and mutant chromosomes were significantly different. The most common haplotype was 2-11-8 which was predominant on normal chromosomes of affected individuals. Haplotype 2-2-8 was observed in 18% of cases on mutant chromosomes and in 4% of cases on normal chromosomes. These data demonstrate possibility and application of haplotype-segregation analysis with use of these intragenic markers for diagnostic purposes in affected families by Marfan's syndrome.
authors.forename: R R
authors.initials: RR
authors.lastname: Valiev
authors.forename: R I
authors.initials: RI
authors.lastname: Khusainova
authors.forename: I A
authors.initials: IA
authors.lastname: Kutuev
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D002118:Calcium / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004815:Epidermal Growth Factor / Q000737:chemistry; D005091:Exons / Q000235:genetics; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018895:Microsatellite Repeats; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D054392:Adipokines
chemical_list: D002118:Calcium; D004247:DNA; D004815:Epidermal Growth Factor; D000071838:Fibrillin-1; D000071837:Fibrillins; D005819:Genetic Markers; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines