Summary:Severe Combined Immunodeficiency (SCID) is a lethal and autosomal recessive hereditary disorder, which has frequently been reported in Arabian horses, dogs, mice and humans. The genetic basis of equine SCID is 5-base pairs deletion in the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene. Up to date, there is no information on the presence of SCID in Arabian horses reared in Turkey either by clinical observation or molecular diagnosis. The main aims of this study were to investigate the presence of SCID mutant allele carrier and to determine SCID incidence in Turkey using molecular techniques. In the study, DNA samples were obtained from 239 Arabian horses raised in state stud farms of Turkey (Karacabey, n=70; Anadolu, n=70 and Sultansuyu, n=99) and they were analyzed using DNA-PKcs gene specific polymerase chain reaction and fragment analysis by capillary electrophoresis. The result of the study showed that, none of the examined Arabian horses has SCID mutation on their responsible gene region. In conclusion, no SCID carrier was identified among examined stud Arabian horses that were representing the 65.5% (239 out of 365) of all officially registered stud animals in Turkey. It is believed that, this first genetic screening study focused on the SCID determination at national level and the evidence of the disease absence have the potential to increase breeding value of Arabian horses originated from Turkey.
Objective: The aim of this study was to evaluate normal reference ranges of intracranial translucency (IT) diameter, and to obtain its nomogram in normal fetuses, during 11-13 weeks of gestation.Methods: This was a retrospective data evaluation of first trimester ultrasound scans. A total of 2417 singleton pregnancies were included in the study. IT was measured in the nuchal translucency plane. Nomogram and formula of IT diameter were defined according to crown-rump length (CRL). Results:The IT diameters were measured successfully in 2250 fetuses (93.1%). The mean maternal age was 31.8±4.0 years. The mean CRL was 62.0±6.9 mm. The mean IT diameter was 1.83±0.29 mm. The linear tendency was determined according to the following formula: IT (mm)= 0.54 + 0.02 × CRL (mm); r 2 =0.24. Conclusion:We presented the feasibility and a nomogram of IT diameter at 11 to 13 +6 weeks of gestation in our population to be used for early prediction of neural tube defects.
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