Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease

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....

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Bibliographic Details
Published in:	Genetics and molecular research Vol. 7; no. 4; pp. 1179 - 1185
Main Authors:	Possamai, C O, Carvalho, F M, Silva, M F C, Wolfgramm, E V, Sartori, M P N, Malta, F S V, Ribeiro, V P, Spina, V P, Gomes, K B, Ferreira, A C S, Louro, I D
Format:	Journal Article
Language:	English
Published:	Brazil 01-01-2008
Subjects:	Brazil Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics Chromosomes, Human, Pair 17 - genetics Gene Duplication Gene Frequency Genetic Markers - genetics Genetics, Population Humans Microsatellite Repeats - genetics Models, Genetic Myelin Proteins - genetics Brazil
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1676-5680 1676-5680
DOI:	10.4238/vol7-4gmr500