A novel KIT gene mutation from a family with piebaldism in the southern part of China / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 668-670, 2005.
Article
in Zh
| WPRIM
| ID: wpr-279973
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutation of a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.</p><p><b>RESULTS</b>G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Base Sequence
/
China
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Polymerase Chain Reaction
/
Piebaldism
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Sequence Analysis, DNA
/
Proto-Oncogene Proteins c-kit
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Genetic Predisposition to Disease
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Mutation, Missense
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Genetics
Limits:
Adult
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Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article