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Detection some Gap Junction gene mutations in hereditary deafness in Syrian families

تحري بعض طفرات جينات Gap Junction في الصمم الوراثي لعائلات سورية

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 Publication date 2015
  fields Pharmacy
and research's language is العربية
 Created by Shamra Editor




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The genetic study concerned with congenital hearing loss is still in its infancy in the Syrian society despite the noticeable spread of this disability

References used
Cabanillas FR and cadinanos BJ. Hereditary hearing loss: genetic counselling . Acta otorrinolaringol Esp. 2012
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Sixty yeasts spp. were isolated from samples of whey which collected from different locations in Syria. These yeasts were classified morphologically according to Barnett’s and physiologically by API technique to identify the species of Yeasts, whe re had found 10 classified yeasts as follows: Candida krusei is the most of yeasts which founded in whey with 21.66 %, and in the Second rank is Candida lusitaniae with 16.66 %. the third rank came (Geotrichum capitatum, Saccharomyces cerevisiae, Rhodotorula minuta) with 11.66%, after that the Candida magnolia is ranked in the fourth rank by distributing with 8.33%. as soon as the Candida famata came in the fifth rank with 6.66%, and in the sixth rank we founded Candida lipolytica with 5%, finally the Rhodotorula. mucilaginosa and Candida. kefyr came in the last rank with 3.33%, so we noticed the variety of the yeasts in the studied locations in Syria.
This study aimed to introduce - in our labs - a new method which confirms Gaucher disease, as we don't have the enzyme assay. In addition, We aimed to know the different mutations found in Syrian population and to compare it with other studies. In fact. we think that this the first time that such a study is carried out in Syria.
The leishmaniasis is a serious health problem in Syria, due to the wide spreading of Leishmania tropica parasite , the difficulty of controlling the reservoirs of parasites, and there is no specific ,safe and active therapy .Due to lack of studies of Leishmania tropica genome , as initial step we detect the presence of SW3 gene.
يعد الماعز الشامي في سورية من الحيوانات الزراعية المحلية الهامة لما يملكه من مزايا ومواصفات تمكنه من الإنتاج والتناسل تحت الظروف البيئية القاسية لهذا فقد استخدم في برامج الخلط التربوي مع الماعز الجبلي كمعطي لمورثات صفة إنتاج الحليب الجيدة للحيوانات الخليطة
In this search we characterized 8 double purposes olive varieties (Mawi Istanbuli, Khilkhali Khishen, Dan, Mniekri, Doaibli, Khilkhali Saghir, Karamani Modabal, Sourani), which cultivated in ACSAD Gene bank in Gellin by ISSR molecular markers to determine the relationship between these varieties, we noticed that these varieties are so close to each others depending on quantitive traits, which ranged from 60% and 85%, it was noticed that Mneikri was apart from the other varieties in its traits, polymorphic rate was 92.94%.
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