BACKGROUND: @entity5108 ( @entity5108 ) is the most common type of @entity1897 ( @entity1897 ), caused by the duplication of the 17p11.2 region that includes the @entity12344 gene. Reciprocal deletion of the same region is the main cause of @entity16 with @entity7577 ( @entity7577 ). @entity5108 accounts for approximately 50% of @entity1897 @entity1 . Diagnostics of @entity5108 and @entity7577 are based on quantitative analysis of the affected region or RFLP detection of breakage points. The aim of this study was to improve the sensitivity and efficiency of @entity5108 and @entity7577 genetic diagnostics by introducing analysis of six STR markers (D17S261-D17S122-D17S839-D17S1358-D17S955-D17S921) spanning the duplicated region. METHODS: Forty-six @entity5108 and seven @entity7577 @entity1 , all genetically diagnosed by RFLP analysis, were tested for duplication or deletion using six STR markers. RESULTS: In all @entity5108 and @entity7577 @entity1 , microsatellite analysis comprising six STR markers confirmed the existence of a duplication or deletion. In 89% (41/46) @entity5108 @entity1 the confirmation was based on detecting three alleles on at least one locus. In the remaining 11% (5) @entity5108 @entity1 , duplication was also confirmed based on two peaks with clear dosage difference for at least two different markers. All @entity7577 @entity1 (7/7) displayed only one allele for each analyzed locus. CONCLUSIONS: Microsatellite analysis using six selected STR loci showed a high level of sensitivity and specificity for genetic diagnostics of @entity5108 and @entity7577 . The results here strongly suggest STR marker analysis as a method of choice in @entity12344 duplication/deletion testing.

Analysis of XXXX duplication and deletion using a panel of six dinucleotide tandem repeats.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5108 :: ('MESH:D002607', 'Disease') :: ['Charcot-Marie-Tooth type 1A', 'CMT1A'] @entity16 :: ('MESH:D009422', 'Disease') :: ['hereditary neuropathy'] @entity12344 :: ('5376', 'Gene') :: ['PMP22'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['hereditary motor and sensory neuropathies', 'HMSN'] @entity7577 :: ('MESH:C536965', 'Disease') :: ['liability to pressure palsies', 'HNPP']
@entity12344 :: (5376,Gene) :: ['PMP22']
