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Showing papers by "Bing-Wen Soong published in 1995"


Journal ArticleDOI
TL;DR: The presence of the trinucleotide repeat elongation in Chinese patients with HD is verified and the range of repeat sizes in affected and normal subjects is established.
Abstract: o sponsible for HD has important implications for both research and clinical practice. However, most of the data relate to white populations. In this study we verify the presence of the trinucleotide repeat elongation in Chinese patients with HD and establish the range ofrepeat sizes in affected and normal subjects. The diagnosis ofHD was based on clinical and family histories, neurological examinations, and special investigations, such as electroencephalography and computerised tomography. Genomic DNA samples were available from a total of 114 persons (51 normal controls and 63 members of 11 unrelated HD families, including 11 unrelated spouses who also served as controls). The size of the (CAG)n trinucleotide repeat was analysed by the polymerase chain reaction (PCR). The genomic primer sequences used in our PCR assay for the (CAG)n repeat were HD-1: 5' ATG AAG GCC TTC GAG TCC CTC AAG TCC TTC 3', and HD-3: 5' GGC GGT GGC GGC TGT TGC TGC TGC TGC TGC 3'.' The PCR assay was performed as described by Warner et al8 with minor modifications. The PCR assay was highly specific and gave products in the 74 base pairs (bp) (nine CAG repeats) to 134bp (29 CAG repeats) range from normal chromosomes, and products of 167bp (40 repeats) and larger from HD chromosomes (figure). One normal and

13 citations