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. |