title: Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population. The duplication was found in 12 members of the family. In two patients with CMT1A symptoms, the duplication was not detected, and one asymptomatic subject showed the duplication. D17S2230, D17S9B, D17S2220, D17S2227, D17S9A, and D17S4A markers showed the highest heterozygosity rates, and D17S2228 and D17S2224 markers were the least informative in our analysis.
authors.affiliation: Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Núcleo de Genética Humana e Molecular, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: C O
authors.initials: CO
authors.lastname: Possamai
authors.forename: F M
authors.initials: FM
authors.lastname: Carvalho
authors.forename: M F C
authors.initials: MF
authors.lastname: Silva
authors.forename: E V
authors.initials: EV
authors.lastname: Wolfgramm
authors.forename: M P N
authors.initials: MP
authors.lastname: Sartori
authors.forename: F S V
authors.initials: FS
authors.lastname: Malta
authors.forename: V P
authors.initials: VP
authors.lastname: Ribeiro
authors.forename: V P
authors.initials: VP
authors.lastname: Spina
authors.forename: K B
authors.initials: KB
authors.lastname: Gomes
authors.forename: A C S
authors.initials: AC
authors.lastname: Ferreira
authors.forename: I D
authors.initials: ID
authors.lastname: Louro
mesh_terms: D001938:Brazil; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D020440:Gene Duplication; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D008957:Models, Genetic; D009185:Myelin Proteins / Q000235:genetics
chemical_list: D005819:Genetic Markers; D009185:Myelin Proteins; C073687:PMP22 protein, human