تحديد التباين الوراثي للجين GALT لدى الأطفال حديثي الولادة في محافظة نينوى

الملخص EN

There are many diseases in Iraq that have never been counted or examined, including diseases related to food, which has deteriorated in recent years, and has rapid and direct impact especially on the children category, one of these diseases is galactosemia.

Blood samples were collected from babies admitted to the children's hospitals in Mosul City (Ibn alatheer and Alkhansaُ ) depending on the clinical symptoms of disease and then serum was taken and DNA has been extracted.

Measuring the concentration of Galactose-1-Phosphate uridyltransferase GALT enzyme activity, galactose -1- phosphate by ELISA technique was done and DNA samples were analyzed by the polymerase chain reaction (PCR).

The results showed decrease in the GALT enzyme level in babies with galactosemia (21.7 ± 0.45 pg\ml) and in non-diagnosed children (79.8 ± 1.44 pg\ml) as compared with its level in healthy babies (160.33 ± 0.93 pg\ml), and the level of enzyme in mother at (20.5 ± 1.92 pg\ml).

The results also, showed decrease in β-carotene, ascorbic acid and selenium levels in babies with galactosemia compared with healthy babies and no change in α-tocopherol level in the cases studied.

The results, did not show any genetic variation in the first region that consists from the first to the fifth exon of GALT gene.

While, the results showed that thirteen cases have genetic variation in the second region that consisting from sixth to ninth exon.

In addition, the results did not show the presence of genetic variation in the third region, which consists of the tenth and eleventh of GALT gene.