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2017-09-22 04:19
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Institutes in The Sultanate of Oman:

1. Ministry of Health Genetic Unit (Medical Genetics): http://www.moh.gov.om/genetics/

2. Ministry of Health Central Health Laboratories (Virology): www.moh.gov.om

3. Ministry of Environment (Microbiology): www.mctmnet.com.om

4. Ministry of Agriculture and Fisheries: www.maf.gov.om

5. Sultan Qabus University: www.squ.edu.om

a. Colledge of Agriculture Biotechnology Lab

b. Colledge of Medicine Genetics Department

c. Colledge of Medicine Haematology Department

d. Colledge of Science & Biology

6. Oman High Technical Colledge (Ministry of Labour): This email address is being protected from spambots. You need JavaScript enabled to view it.
Molecular Studies on Omani Population 

Condition OMIM Gene/locus Mutation(s). genotypes Publication(s)
Cytochrome P450, subfamily IIC, polypeptide 9.CYP2C9 isoenzyme genotypes 601130 10q24 CYP2C9’2CYP2C9”3 Tanira MO et al., 2007
Three M syndrome 273750 6p 21.1 c.4406A>G (exon 23) an aminocaid change Q1469R Valerie Cormier-Daire MD, PhDDepertment of Medical Genetics and INSERM, France
Alport Syndrome A. Rec 207765 COL4A3 R1215X(CGA>TGA Personal Cominication ( Dr. Mato Nagel, Molecular Genetics Unit, Hamburg-Ependorf University)
Apparent Mineralocorticoid excess (AME 1) 218030 16Q22HSD11B2 Exon 2:L114Delta6ntExon 3 :A221VExon 5: V322ins9ntExon 1: R74G and PDelta1nt Quinkler M et al.,. 2004 .
Beta-Thal 141900 11p15.5 IVS15(G>C);Cd 44-C;IVS1-3 end-25;619bp del;,IVS II,1G.A; Cd36/37(C>T) Daar et al., 2004White et al., 1993
Cystic Fibrosis 219700 7q31.2 S549R(T>G)deltaF508 1.Frossard PM et al., Hum Mutat 1998.2. Frossard et al. Eur Respir J. 1999.3 Frossard P et al.,1996.4.Romey et al, Hum Genet. 1999
Cohen Microcephaly 216550 8Q22-Q23 Exon 437934G>A Hennies et al., 2004;Mochida at al., 2004
Charkot-Marie-Tooth disease 4A   8q GDAP1 geneStart-codone mutation Karl sperling
Congenital Adrenal Hyperplasia(21-Hysdroxylase deficiency) 201910 CYP 21A2 gene Mut exons 4, 6,7,8(lle 236Asp,Val 237Glu,Met 239Lys,306T insert,Glu 318Stop ; convertion Cyp 21P to Cyp 21A2);Mut exon 2 :656) Prof W. Hopper (personal comunication
Fanconi Anaemia 600185 FANKCD1 gene 9609C>Texon 25 Prof. Martin Digweed, Berlin, Germany
Familiar CRM+Factor X deficiency 227600 13Q34 Gly381Asp Pinotti M et al.,. 2003
Ectodermal dysplasia A. Rec   2 EDAR718delAAA. Andreas Tzschach, Max Plank Inst (personal communication)
Ectodermal dysplasia X-linked   X-linked EDA
(Gly291Arg, G1113A).
Andreas Tzschach, Max-Plank Inst (personal communication)
Familiar Microcephaly 607117 8P23 MCPH-1 Ganesh Moshida, Harward Instutute Neurology (personal communication)
Familiar Microcephaly 608716 1q31 MCPH-5ASPM gene Ganesh Moshida, Harward Instutute Neurology (personal communication)
G6PDDeficiency 305900 Xq28G6PDdehydrogenase MediterranianChathamG6PD A- Daar et al., 2004;White et al., 1993
Grebe Acromesomelic Dysplasia 200700 20q11.2 Del G1144 Al-Yahyaee et al., 2003
HbH disease (alfa-Thal) 141800 16pter-p13.3 Alfa-globinaPA-1a/aPA-1a--MED-1 del-2 (-3.7 kb) Dr. Baysal E, Al-Wasl Hospital, UAE(personal communication)Ramachandran m et al., 1992
Hemoglobin Muscat 141900 11p15.5 alfa 2 beta (2) 32 (B14) Leu® Val Ramachandran M et al., 1992
Hemoglobin S (Oman) 1419000245 11p15.5 HBB, GLU6VAL AND GLU121LYS Langdown et al. (1989)Nagel et al. (1998)
Hemoglobin Dhofar 141900 11p15.5 codon 29 C-->T (IVS-1 nt-3) Marengo-Rowe et al., 1968;Wlliamson et al., 1995
Hyperexplexia 149400 5q31-q33 GLRA1 Dr. M.Fiol (personal comunication)
Hemophagocytic Lymphohistiocytosis type 1 603552 9q21 FHL1 geneDel 9q 21.5-22 Ohadi et al.1999;Muralitharan S et al, 2005
Lissencephaly LIS 4A 300121 Xq22.3-23 DCX geneexon 5 2T>C B Dobbyns ( Chicago, USA)
Limb Girdle muscular dystrophy 2B;LGMD2B (Miyoshi myopathy) 254130 2P13.3-13.1 c.526C>(p.Gln176X) exon 6 Wolfram Kress and Prof. Grimm(Wuerzburg, Germany)
Pontocerebellar Hypoplasia type 2 277470 7q11-21   Rajab A et al.,Neurology,2003
Robinow syndrome 268310 9q22RBNW1 Loss ROR 2;Mut R442X Afzal A. et al., Letter. Nature Genetics 2000; 25(4):419-422.’Prof. Stefan Mundlos(personal comunication)
Spinal Muscular Atrophy 253300 5q12.2-q13.3 deletions of exons 7 and 8 Simsek et al., 3003
Sickle Cell Anaemia 603903 11p15.5BeninBantuBantu A-4Arab-IndianAI/AI beta121 Glu >Lysbeta 6 Glu > ValHbOARAB Daar et al., 2004;White et al., 1993
SED (Spondyloepiphyseal Dysplasia)Omani type 608637 10Q23CHST3 Missence mut in C6ST-1 geneR304Q Tiele et al., 2004;Rajab et al.,2004
Schwartz-Jampel syndrome 255800 1P36.1 HSPG-2 Nicole S et al.,Nature Genet. 26: 480-483, 2000.
Thanatophoric Dysplasia 187600 4p16.3 G38OR in FGFR3 Prof. Mundlos (personal communication)
Zellweger syndrome 602136 peroxin PEX-1 Mut :c.1927_1928dupA;.Thr643AsnfsX 21 exon 12 and c. 2088A>G[p.lle696Met; exon 13 Dr. Andreas Ohlenbusch (personal communication)


In Oman, the Ministry of Health and Sultan Qaboos University are the centres of genetic research. These institutes have collected epidemiological data on genetic diseases and particularly focused on research pertaining to prevention of genetic blood diseases. Due to a comprehensive national programme, the birth prevalence of genetic blood disorders has been reduced by 10%.

 

1 Country: Oman
Institute: Genetic Unit of MOH, Oman
Address: P.O.Box 393, Posal Code 113, Saltanate of Oman
Tel: 986601498
Fax: 968696099
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Head: Dr. Ali Jaffer Mohammed
Focus of interest: 1) Disease diagnostic; 2) Bioinformatics
Key Technical Fecilities: 1) DHPLC; 2) PCR (RNA or DNA);3) Bioinformatics centre
2 Country: Oman
Institute: Sultan Qaboos University
Address: P.O.Box 35, Al-Khod, Muscat 123, Oman
Tel: 986515113
Fax: 968513880
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Website: http://www.squ.edu.om
Head: Dr. Saud Al-Riyami
Focus of interest: 1) Disease diagnostic; 2) Bioinformatics
Key Technical Fecilities: 1) Two dimensional electrophoresis; 2) DHPLC; 3) PCR (RNA or DNA); 4) DNA sequencer; 5) GC Mass
Training Fecilities:  
Long-term: M.Sc.
3 Country: Oman
Institute: Sultan Qaboos University College of Medicine & Health Sciences
Address:  
Tel: 96884415137
Fax: 96824415137
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Head: Dr. Zakia Al-Lamaki
Focus of interest: 1) Disease diagnostic; 2) Drugs, Therapeutics and Products;3) Bioinformatics
Key Technical Fecilities: 1) DHPLC;2) PCR (RNA or DNA); 3) DNA sequencer; 4) GC Mass
Training Fecilities:  
Short-term: 1) Clinical techniques/research
Long-term: M.Sc.

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