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The role of MSX1 gene in affected families of hypodontia attending in Tertiary Care Hospital of Quetta

Research Paper | July 1, 2018

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Muhammad Nawaz, Nasrullah Mengal, Agha Muhammad Raza, Nisar Ahmed, Muhammad Saeed, Jamil Ahmad

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Int. J. Biosci.13( 1), 425-429, July 2018

DOI: http://dx.doi.org/10.12692/ijb/13.1.425-429


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The purpose of this study is to identify genotype and phenotype of in Pakistani families with hypodontia and to map the genes locus responsible for this disease. Tooth agenesis known as hypodontia, is a tooth developmental anomaly characterized by congenital absence of one or more teeth. It may occur in primary or secondary dentition and is one of the common craniofacial anomalies. Hypodontia prevalence of is 4.7% for females and 1.3% for males. Third molar agenesis is the most common with an incidence of 20% in general population of Pakistan. The etiology of hypodontia is mainly Genetics whereas environmental factors may also play a role in hypodontia. Blood samples (5ml) were collected from all family members. Genomic DNA was extracted by using inorganic method. All the two coding exons of MSX1 (NM_002448.3) were amplified and sequenced. Sequencing of the MSX1 coding exons and splice sites showed a homozygous missense substitution in exon 1 (c.119C>G p.Ala40Gly) in the two affected individuals of the two families out of fifteen families. We identified a missense mutation (p.Ala40Gly) in MSX1 gene coding exon 1 in two Pakistani families with hypodontia.


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The role of MSX1 gene in affected families of hypodontia attending in Tertiary Care Hospital of Quetta

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