The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome / 中华整形外科杂志
Chinese Journal of Plastic Surgery
;
(6): 48-50, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-297099
ABSTRACT
<p><b>OBJECTIVE</b>We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for contrast.</p><p><b>METHODS</b>The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing.</p><p><b>RESULTS</b>A 892C > T at nucleotides in FOXL2 was found in the twelve affected patients. No mutations was found in any of the health members in the family.</p><p><b>CONCLUSIONS</b>FOXL2 may be a important pathogenesis for the disease in this Chinese family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Syndrome
/
Blepharophimosis
/
Sequence Analysis, DNA
/
Asian People
/
Ethnology
/
Forkhead Transcription Factors
/
Forkhead Box Protein L2
/
Genetics
Limits:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Plastic Surgery
Year:
2007
Type:
Article
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