الفهرس 
Material and methodsOnly 14 pages are availabe for public view
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Abstract
Non-insulin dependent diabetes mellitus (NIDDM) or Type 2
.diabetes is a common metabolic disorder with considerable morbidity and
mortality, where obesity constitutes the major predisposing risk factor
which is determined by both environmental and genetic factors. Obesity
is strongly associated with NIDDM although the nature of the association
is not clearly understood.
Genetic screening programs to detect individuals at risk may help
in prevention and or avoidance of diseases, therefore, analytic stratigies
for performing genome screening for NIDDM susceptibility genes need
.to be addressed.
The aim of this work was to study genes predisposition to diabetes
mellitus among families of non-insulin dependent diabetic patients in a
trial to find the genes responsible for causation of type 2 diabetes
mellitus.
Twenty five subjects with non-insulin dependent diabetes mellitus
were selected with his or her partner free from diabetes and had
offsprings. The subjects and their partners and their offsprings collecively
were one hundred and four individuals, to all of them, full medical
history, full clinical examination, plain x-ray chest & heart, resting
E.C.G’H abdominal ultrasonography and fundus examination were done.
The following investigations were done: stool & urine analysis, full
blood picture, fasting and postprandial blood glucose level, serum insulin
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SUMMARY
level, liver and kidney functions, serum sodium and potassium,
lipidogram which include total lipids, cholesterol, triglyceride and
screening of three genes: Obesity gene, Hepatocyte Nuclear Factor-4 a
gene and Glycogen Synthase gene which represents a predispose genes
for diabetes mellitus.
Oral glucose tolerance test was done to the susceptible offsprings
who had one or more genes predispose to diabetes mellitus.
The results of this work showed that:
• The prevalence of diabetes among the studied families was more in
middle age (P < 0.05).
• There was no sex predominance of diabetes (P > 0.05).
• The disease was more in families with past history of diabetes
(P<0.05).
• Diabetics had Increase in their body mass index when compared
with non-diabetics (P < 0.05).
• Diabetics had increase in the mean of systolic & diastolic blood
pressure, serum insulin level, serum uric acid level, serum cholesterol
& serum triglyceride levels when compared with non-diabetics
(P<O.O 1 & P < 0.05).
• The presence of bp < 125 in marker D78680 and bp < 153 in
marker D78514 of the OB gene denoting us that the individuals is lean
since these bps were statistically highly significance in lean when
compared with obese (P < 0.01) and were statistically significance in
lean diabetics when compared with obese diabetics (P < 0.05).
• The presence of bp > 129 in marker D78680 and bp > 155 in
marker D7S514 of the OB gene denoting us that the individuals is
obese since these bps were statistically highly significance in obese
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SUMMARY
when compared with lean (P < 0.01) and were statistically significance
in obese diabetics when compared with lean diabetics (P < 0.05).
• The presence of allele A 1 of the glycogen synthase was statistically
significance in lean and in non-diabetics when compared with obese
and diabetics (P < 0.05).
• The presence of allele A2 of the glycogen synthase was statistically
significance in obese and in diabetics when compared with lean and
non-diabetics (P < 0.05).
• There was mutation in exon 8 and in exon 4 of the Hepatocyte
Nuclear Factor 4-0. gene where mutation of exon 8 was statistically
significance in diabetics when compared with non-diabetics (P < 0.05)
and in obese diabetics when compared with lean diabetics (P<0.05),
while mutation of exon 4 was statistically significance in obese
diabetics when compared with obese-non diabetics (P<O.05).
• Mutation in exon 4 of the HNF-4o. gene occur in MODY mothers
and in their first offspring who had impaired oral glucose tolerance
test. So, the first offspring of the family with diabetes is a risk
individual for susceptibility of developing diabetes mellitus in the
future.
• The presence of:
a- bp > 129 in marker D7S680.
b- A2 allel of the GYS 1 gene.
c- Mutation of exon 4 or exon 8 of the HNF-40. gene, denote that
the offsprings predispose to obesity and diabetes.