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Sequencing analysis of the OFC1 gene on the nonsyndromic cleft lip and palate patient in Korean / 대한치과교정학회지
Korean Journal of Orthodontics ; : 185-197, 2003.
Article in English | WPRIM | ID: wpr-655146
ABSTRACT
This study was performed to identify the characteristics of the OFC1 gene (locus chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80

subjects:

40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But,in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089). The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Palate / Carrier Proteins / Cleft Lip / Genome / Telomerase / Microsatellite Repeats / Ecthyma, Contagious / Alleles Type of study: Prognostic study Limits: Animals / Female / Humans / Male Language: English Journal: Korean Journal of Orthodontics Year: 2003 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Palate / Carrier Proteins / Cleft Lip / Genome / Telomerase / Microsatellite Repeats / Ecthyma, Contagious / Alleles Type of study: Prognostic study Limits: Animals / Female / Humans / Male Language: English Journal: Korean Journal of Orthodontics Year: 2003 Type: Article