Research from China of CMT families

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Research from China - pretty technical abstract, but at the end it says

a mutation analysis of 24 CMT families was used.

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1: Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai)

2000;32(4):364-368

Cloning of Human Myelin Protein Zero-like Genes by Bioinformatics

Strategy.

Tang DS, Yu KP, Tang XX, Zhang HL, Pan Q, Dai HP, Xia JH.

National Laboratory of Medical Genetics of China, Hunan

Medical University, Changsha 410078, China.

nlmglcy@...

ABSTRACT:

To clone novel myelin protein related genes, two human ESTs, which

shared significant similarity with the human myelin protein zero gene,

were found by the comparison of homologue between the cDNA coding region

sequences of MPZ gene and the EST database of NCBI. An 801 bp EST contig

was assembled, which was 100% identical with a 128 kb

genomic sequence, mapped to 1q24. A 435 bp open reading frame (ORF)

within the 801 bp contig was shown by computer analysis. Two primers

designed according to the sequence of the contig, were coupled with the

primers(lambdagt10-5 and gt10-5) on the sequences flanking cloning site

of the cDNA library vector to amplify the cDNA library sequences

bynested PCR. New primers, designed based on novel cDNA sequences, were

used for the PCR amplification with lambdagt10-5 and gt10-5 in the same

way as above. Finally, the human myelin protein zero like gene isoform I

and II (MPZL1a, MPZL1b GenBank AF095727, AF092424) were cloned.

Comparison of gene and protein structures between MPZL1 and MPZ

revealed that MPZL1 is the second member of MPZ family. Mutation

analysis of MPZL1 gene was performed in 24 Charcot-Marie-Tooth disease

(CMT) families and 26 nonsyndrome deafness families, but no mutation was

found.

PMID: 12075424 [PubMed - as supplied by publisher]