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The impact of risk factors on the development of nonsindromic cleft palate, lip and/or palate in the Latvian population

Funding: LZP GR 09.1115

Period: 2010-2013

Project manager: Dr. med. Baiba Lāce

Introduction

Each year 30 to 40 children are born with cleft palate or cleft lip with/or without palate (CP/CLP) in Latvia. The cleft formation occurs in embryonal development and it is influenced by both external and genetic factors. In 2002 the collection of data and DNA samples of cleft patients was established. At the moment collection contains data of 640 CP/CLP patients and a formed biobank contains DNA samples of 251 patients and both parents and sibs. Candidate gene analysis has been carried out to identify common genetic variations in CP/CLP in Latvian population.

Aim

The aim of the Project is to reveal and evaluate risk factors of the cleft palate or cleft lip palate development in population.

Tasks

1)      Data collection: that contains information about life style, previous diseases, family history, genealogy, data about small anomalies in patients and their parents

2)      Anthropometric measurements of parents of CLP patients: direct measurement, using 20 markers in face and indirect by x-ray (lateral and frontal)

3)      Correlation of anthropometric markers with genetic analysis

4)      Candidate gene analysis by APEX, TaqMan, sequencing and Maldi-Tof

5)       MtDNA haplogroups stratification in CP/CL patients

 Results

 1)      Significantly large and well characterised DNA and data collection

2)      The examination of patients and their parents for small anomalies allows the grouping of the patients in subphenotypes and analysis of the groups using molecular markers. Furthermore, the correlation of anthropometric and molecular data will enable description of phenotype of cleft palate or cleft lip palate predisposition.

3)      CP/CL candidate gene list will be supplemented (or vice versa) with genes involved in CP/CL development in Latvian population. This information will allow identification of individuals for extensive genetic testing to discover responsible mutations and carry out risk prognosis and genetic consulting.



Mājas lapas izstrādi finansēja ERAF 2.1.1.2. aktivitātes projekts Nr. 2010/0196/2DP/2.1.1.2.0/10/APIA/VIAA/004 "Latvijas biomedicīnas pētījumu integrācija Eiropas zinātnes telpā".