Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization

Study Overview
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Brief Summary
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The genetic factors associated with Molar-Incisor Hypomineralization (MIH), a dental condition affecting permanent molars in individuals aged 8-13. Buccal swab samples collected from 90 MIH-affected participants and 90 systemically healthy controls. The goal is to identify potential genetic markers contributing to the etiology of MIH, shedding light on previously unexplored aspects of genetic susceptibility.

Detailed Description
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The aim of study is to elucidate the unknown aspects of genetic predisposition that may be effective in the etiology of Molar-Incisor Hypomineralization (MIH), that is, to identify unexplored genes that may be associated with MIH. The buccal swab method will be used for the purpose of collecting DNA samples.Samples will be collected from the inner cheek using a swab. The collected samples will be placed in single-use sterile Eppendorf tubes containing Phosphate Buffered Saline (PBS) solution. The samples will be stored at +4 degrees Celsius in a refrigerator, and DNA isolations will be performed within a few days. .

Official Title
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Investigation of Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization

Conditions
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Molar-Incisor Hypomineralization

Intervention / Treatment
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* Diagnostic Test: DNA Sample Collection + DNA genotyping


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients aged between 8 and 13 years Patients whose parents consent to participate in the study Patients who provide cooperation for treatment and study For the study group: patients with at least one molar tooth showing molar-incisor hypomineralization For the control group: patients without molar-incisor hypomineralization Patients without a genetic disease in themselves or their family Exclusion Criteria: Patients with a genetic disease in themselves or their family

Ages Eligible for Study
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Minimum Age: 8 Years
Maximum Age: 13 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| MIH-affected participants (study group )<br>The Study Arm comprises individuals aged 8-13 with Molar-Incisor Hypomineralization (MIH) in at least one permanent molar. | Diagnostic Test: DNA Sample Collection + DNA genotyping<br>* Volunteers' oral epithelial cell DNA will be collected using DNA swabs, followed by DNA isolation with the PureLink DNA Isolation Kit. The isolated DNA's quality will be assessed using the Invitrogen QUBIT 4 Fluorometer, and the samples will be stored at -20°C until analysis of specific genetic regions.<br>|
| Systemically healthy controls (control group )<br>Systemically healthy individuals without MIH. | Diagnostic Test: DNA Sample Collection + DNA genotyping<br>* Volunteers' oral epithelial cell DNA will be collected using DNA swabs, followed by DNA isolation with the PureLink DNA Isolation Kit. The isolated DNA's quality will be assessed using the Invitrogen QUBIT 4 Fluorometer, and the samples will be stored at -20°C until analysis of specific genetic regions.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| genotyping of polymorphisms | The genotyping of polymorphisms will be conducted using the StepOnePlus instrument (Thermo Fisher Scientific, Inc.) through Real-Time PCR, following the manufacturers' protocols (cat. no. 4371355, Thermo Fisher Scientific, Inc.) and utilizing Taqman SNP genotyping kits. The reaction volume will be 10 µl in total, comprising 5 µl of Genotyping Master Mix (Applied Biosystems, Foster City, CA), 3.5 µl of nuclease-free H2O (Thermofisher, USA), 0.5 µl of genotyping assay (Applied Biosystems), and 1 µl of DNA. | 1.5 -2 year |