www.sbdmj.com - Stomatologija - Baltic Dental and Maxillofacial Journal

Summary

Cleft lip with or without cleft palate and cleft palate (CL/CLP/CP) is one of the most common malformations among newborns. The estimated prevalence in Latvia is 1/700. Nonsyndromic CL/CLP/CP is a complex trait determined by multiple, interacting genetic and environmental factors. MSX1 gene is one of the most important candidate-genes, which had been analyzed in relation with nonsyndromic CL/CLP/CP.

The objective of our study was to examine the etiologic role of MSX1 gene mutations in the development of nonsyndromic CL/CLP/CP in Latvian population.

Materials and methods. DNA was extracted from venous blood of 53 patients with cleft lip with or without palate. Polymerase chain reaction (PCR) was performed of selected segments of MSX1 gene. These were sequenced and analysed by comparison with reference sequence, accession Nr. AF426432 (NCBI).

Results. 16 DNA sequence variations were identified in 53 patient samples; 6 of them have not been previously described. Identified sequence variations localized in coding regions do not cause amino acid substitutions, therefore they are not considered as mutations with an etiological role in CL/CLP/CP development.

Baltic – Taiwan joint research project "Identification of genes involved in craniofacial morphogenesis and susceptibility to orofacial clefting in a human genome scan 2004-2006".

Key words: MSX1 gene, cleft lip with or without palate

Received: 01 02 2005

Accepted for publishing: 24 03 2006

¹Department of Medical Biology and Genetics, Riga Stradins University, Latvia

²Biomedical Study and Research Centre, University of Latvia, Latvia

³Department of Oral and Maxillofacial Surgery, Institute of Stomatology, Riga Stradins University, Latvia

Baiba Lace1 - M.D., MSc, Head of laboratory of Molecular Genetics at Department of Medical Biology and Genetics
Inta Vasiljeva2 - Dr.Biol.
Indra Dundure1 - MSc, assistant
Biruta Barkane³ - D.D.S., lecturer

Ilze Akota³ - D.D.S., MSc (Oslo), Dr.Med., prof.

Astrida Krumina¹ - MSc, prof., Head of Department of Medical Biology and Genetics

Address correspondence to Baiba Lace, Dept. of Medical Biology and Genetics, Riga Stradins University, Dzirciema 16, Riga, Latvia, LV 1007.

E-mail: baiba.lace@gmail.com



	Baltic Dental and Maxillofacial Journal

March, 2006, Vol. 8, No. 1 CONTENTS SCIENTIFIC ARTICLES Assessment Of Skeletal And Dental Pattern Of Class II Division 1 Malocclusion With Relevance To Clinical Practice 3-8 Comparison between Scanora® panoramic radiography and bitewing radiography in the assessment of marginal bone tissue 9-15 The Craniofacial Morphology of the Parents of Children with Cleft Lip and/or Palate: A Review of cephalometric studies 16-20 Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate 21-24 Influence of premolar extractions on tooth size discrepancy. Part Two: Analysis of Bolton values 25-29 The effect of 2 different diameter cast posts on tooth root fracture resistance in vitro 30-32 © 2006 Stomatologija		Stomatologija 2006; 8 (1): 21-4 179 KB Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate Baiba Lace, Inta Vasiljeva, Indra Dundure, Biruta Barkane, Ilze Akota, Astrida Krumina Summary Cleft lip with or without cleft palate and cleft palate (CL/CLP/CP) is one of the most common malformations among newborns. The estimated prevalence in Latvia is 1/700. Nonsyndromic CL/CLP/CP is a complex trait determined by multiple, interacting genetic and environmental factors. MSX1 gene is one of the most important candidate-genes, which had been analyzed in relation with nonsyndromic CL/CLP/CP. The objective of our study was to examine the etiologic role of MSX1 gene mutations in the development of nonsyndromic CL/CLP/CP in Latvian population. Materials and methods. DNA was extracted from venous blood of 53 patients with cleft lip with or without palate. Polymerase chain reaction (PCR) was performed of selected segments of MSX1 gene. These were sequenced and analysed by comparison with reference sequence, accession Nr. AF426432 (NCBI). Results. 16 DNA sequence variations were identified in 53 patient samples; 6 of them have not been previously described. Identified sequence variations localized in coding regions do not cause amino acid substitutions, therefore they are not considered as mutations with an etiological role in CL/CLP/CP development. Baltic – Taiwan joint research project "Identification of genes involved in craniofacial morphogenesis and susceptibility to orofacial clefting in a human genome scan 2004-2006". Key words: MSX1 gene, cleft lip with or without palate Received: 01 02 2005 Accepted for publishing: 24 03 2006 ¹Department of Medical Biology and Genetics, Riga Stradins University, Latvia ²Biomedical Study and Research Centre, University of Latvia, Latvia ³Department of Oral and Maxillofacial Surgery, Institute of Stomatology, Riga Stradins University, Latvia Baiba Lace1 - M.D., MSc, Head of laboratory of Molecular Genetics at Department of Medical Biology and Genetics Inta Vasiljeva2 - Dr.Biol. Indra Dundure1 - MSc, assistant Biruta Barkane³ - D.D.S., lecturer Ilze Akota³ - D.D.S., MSc (Oslo), Dr.Med., prof. Astrida Krumina¹ - MSc, prof., Head of Department of Medical Biology and Genetics Address correspondence to Baiba Lace, Dept. of Medical Biology and Genetics, Riga Stradins University, Dzirciema 16, Riga, Latvia, LV 1007. E-mail: baiba.lace@gmail.com