Genetic Disorders in Saudi Arabia

Al‐Hassnan, Zuhair N.; Sakati, Nadia

doi:10.1007/978-3-642-05080-0_19

Cited by 5 publications

(2 citation statements)

References 306 publications

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“…Novel autosomal recessive genetic disorders are frequently observed in the clinic setting, yet only a small number has been published [Al-Hassnan and Sakati, 2010]. The consanguineous pedigrees with large number of affected individuals with autosomal recessive conditions have led to mapping of many genes, at least in part, on Saudi families by exploiting the powerful technologies of autozygosity mapping and exome sequencing (see below); illustrative examples are provided in Table I.…”

Section: Novel Genetic Diseases In Saudi Arabiamentioning

confidence: 98%

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Al‐Owain

Alzaidan

Al‐Hassnan

2012

American J of Med Genetics Pt A

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Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive disorders is higher than in other known populations. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size. Founder mutations have been recognized in many autosomal recessive disorders, many of which are overrepresented within certain tribes. On the other hand, allelic heterogeneity is also observed among common and rare autosomal recessive conditions. With the adoption of more advanced molecular techniques in the country in recent years in conjunction with international collaboration, the mapping of various autosomal recessive disorders has increased dramatically. Different genetic concepts pertinent to this highly inbred population are discussed here. Addressing such genetic disorders at the national level will become a cornerstone of strategic health care initiatives in the 21st century. Current efforts are hampered by many socio-cultural and health care related factors. Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign.

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Section: Novel Genetic Diseases In Saudi Arabiamentioning

confidence: 98%

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Al‐Owain

Alzaidan

Al‐Hassnan

2012

American J of Med Genetics Pt A

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“…Novel autosomal recessive genetic disorders are frequently observed in the clinic setting, yet only a small number has been published [Al‐Hassnan and Sakati, 2010]. The consanguineous pedigrees with large number of affected individuals with autosomal recessive conditions have led to mapping of many genes, at least in part, on Saudi families by exploiting the powerful technologies of autozygosity mapping and exome sequencing (see below); illustrative examples are provided in Table I.…”

Section: Novel Genetic Diseases In Saudi Arabiamentioning

confidence: 99%

Mild synthesis of benzylated bamboo in LiCl/DMSO solution

Sun

et al. 2011

J of Applied Polymer Sci

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Benzylated bamboo was mildly synthesized in nonaqueous medium without mercerization pretreatment. The ball‐milled bamboo was firstly preswelled in lithium chloride/dimethyl sulfoxide (LiCl/DMSO) solution and then reacted with benzyl chloride in the presence of solid NaOH with varying molar ratios of benzyl chloride to OH groups of bamboo (1–4), reaction times (1–8 h), and temperatures (60–90°C). Benzylated bamboo products with yields from 51.1 to 106.9% and with degrees of substitution [DS, apparent value evaluated by Fourier transform infrared (FTIR) spectra] between 0.2 and 1.2 were synthesized. FTIR and 13C cross polarization/magic angle spinning nuclear magnetic resonance (CP/MAS NMR) spectroscopy confirmed the incorporation of benzyl groups into bamboo; SEM observations of the highly benzylated bamboo showed porous surface with small irregular slices ascribed to the disruption of intermolecular and intramolecular hydrogen bonds between cellulose. Because of the degradation of amorphous components, the crystallinity decreased negligibly after modification and the thermal stability increased slightly but was lower than that of cellulose. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012

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Neurometabolic Disorders

Mohamed¹,

Salih²

2020

Clinical Child Neurology

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Genetic Disorders in Saudi Arabia

Cited by 5 publications

References 306 publications

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Mild synthesis of benzylated bamboo in LiCl/DMSO solution

Neurometabolic Disorders

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