A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 459-462, 2004.
Article
in Zh
| WPRIM
| ID: wpr-328850
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>Two genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM.</p><p><b>METHODS</b>In twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning.</p><p><b>RESULTS</b>The numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family.</p><p><b>CONCLUSION</b>There might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.</p>
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
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Blotting, Southern
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Polymerase Chain Reaction
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RNA-Binding Proteins
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Protein Serine-Threonine Kinases
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Trinucleotide Repeats
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Microsatellite Repeats
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Myotonin-Protein Kinase
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Genetics
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Myotonic Dystrophy
Limits:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Document type:
Article