European Journal of Medicine

4-11

Authors: Olga A. Baturina, Igor V. Morozov

Results of phenylalanine hydroxylase (PAH) locus molecular genotyping for 115 phenylketonuria (PKU) patients and their family members from Novosibirsk and Kemerovo regions of Western Siberia are presented. The direct exons and adjacent introns regions sequencing was used to identify PKU-associated mutations. Mutations typical for Europe (p.R158Q, p.R252W, p.P281L, IVS10-11G>A, p.R408W, IVS12+1G>A) and typical for South-Eastern Asia and Turkey (p.R261Q и p.R243Q) were identified as well as a bunch of rare mutations (IVS2+5G>A, p.R155H, p.Y168H, p.W187R, E221_D222>Efs, p.A342T, p.Y386C, IVS11+1G>C). The p.R408W mutation was prevailing. Mutations spectrum for Novosibirsk region appeared to be more diverse than one for Kemerovo region.

19-24

Authors: Ivan Milanov, Ksenia Kmetska, Boryana Popivanova, Ivanka Dimova, Tanya Kadiyska, Emilia Naseva, Veselina Grozeva

Background The intensive researches during the last 40 years have found the human major histocompatibility complex (HLA) as the only locus conclusively associated with multiple sclerosis (MS). Recently, a possible influence of HLA-G in MS has been suggested due to its significant role in immune tolerance. One of them, HLA-G 14bp INS/DEL, has not been intensively studies and the published studies reported controversial results. Aim The aim of the present study was to examine the association of HLA-G 14bp INS/DEL and MS. Methods We present a case control study with 51 patients (familial MS 39%) and 51 healthy controls. All cases were with definite MS according to McDonald’s criteria. The analysis of HLA-G 14bp INS/DEL was performed by PCR of DNA from peripheral blood. Results Overall comparison did not reveal statistically significant association between HLA-G 14bp INS/DEL and MS. A higher frequency of 14bpINS allele (60% vs 43%) and INS/INS genotype (40% vs 24%) was noted in the familial versus sporadic cases and controls. A significant correlation was found for genotype INS/INS in females. Surprising and reciprocal to the literature results were found in males. Genotype INS/DEL (high producers) was associated with higher risk, whereas INS/INS (low producers) was found to be protective. Conclusion HLA-G 14bp INS/INS is likely to be involved in familial MS and females in our population. The finding in males should be interpreted with a caution. The results warrant additional studies with international collaboration and larger sample size.

34-39

Authors: Anh Tran Tuan, Dang Tran Van, An Nguyen Phan Hong, Dung Manh Truong, Vo Truong Nhu Ngoc, Phuong Nguyen Thi Thu, Tran Tuan Anh

Objective: assessement the sagittal relationship index on Cephalometric. Subjects of study: 42 Vietnamese aged 18-25 with normal occlusion. Method: clinical description on digital Cephalometric. Results and conclusion: SNA (male 82,64± 2,19; female 81,16±2,42); SN-Mp cắn (male 13,45±1,25; female 81,16±2,42); SNB (male 81,65± 2,25; female 79,85± 2,30); NPog – POr (male 85,84± 1,24; female 84,09±5,56); Angle Y(0) (male 61,71± 2,47; female 61,20±5,80), ANB (male 2,14±0,13; female 2,05±0,12); U1 – SN (0) (male 101,03±1,83; female 100,45±1,67); U1 –NA (0) (male 22,52±1,78; nữ 22,33± 1,88); U1–NA (male 5,10±0,61mm; female 4,99±1,28mm); U1-L1 (0) (male 123,38±2,27; female 120,36±2,05); L1 –MeGo (0)(male 94,98±0,80; female 94,48±0,82); L1 – NB (0)( male 94,98±0,80; female 94,48±0,82)