Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome
ABSTRACT Objective: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. Materials and Methods: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject...
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Published in | European journal of dentistry Vol. 8; no. 1; pp. 079 - 084 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
A-12, Second Floor, Sector -2, NOIDA -201301, India
Thieme Medical and Scientific Publishers Private Ltd
01.01.2014
Medknow Publications and Media Pvt. Ltd Medknow Publications & Media Pvt Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | ABSTRACT
Objective:
In the present study, we have investigated the genetic status of
CTSC
gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community.
Materials and Methods:
Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with
CTSC
exon specific primers and were analyzed by direct sequencing.
Results:
Sequencing analysis identified Ile453Val mutation within exon 7 of
CTSC
gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition.
Conclusion:
The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1305-7456 1305-7464 |
DOI: | 10.4103/1305-7456.126250 |