Genetic markers in coronary heart disease

Coronary heart disease [CHD] was found to aggregate in families. So the present study aimed at studying certain genetic markers [lipoproteins, ABO blood groups and dermatoglyphics], in a group of 60 patients with CHD and a control group to detect any significant association between such genetics markers in this disorder. This can throw light on its genetics. The study revealed significant and marked association of CHD with low alpha-lipoprotein, high pre-beta and beta-lipoproteins. No significant association was detected with ABO phenotypes. Definite significant association was also detected between CHD and certain dermatoglyphics phenotypes including FTP, T-D count and palm patterns. These significant associations of CHD and these genetic markers which are genetically determined denoted strongly genetic etiology or at least genetic predisposition of CHD. Detection of such genetic markers may help in determination of risky individuals in population and families of CHD patients. This can help in prevention by proper genetic counseling

Gaucher's disease with severe mental retardation, growth retardation, delayed bone age and persistent HbF: a case report

A 4.5 years old boy with anemia and gross hepatosplenomegaly was referred to the Human Genetics Department as a thalassemia major case for investigtion. Haematological and electrophoretic findings were not compatible with thalassemia major. The diagnosis of Gaucher's disease, type III, was established according to the clinical, haematological and bone marrow studies. The elevated serum acid phosphatase confirmed the diagnosis. The normal parents and affection of 3 sibs with similar condition were consistent with the autosomal recessive mode of inheritance. The condition was associated with severe mental retardation, growth retardation, delayed bone age and persistent Hb F

Inheritance of diabetes mellitus

The present study was carried out on 600 diabetic cases, 80.8% were non insulin dependent diabetic [NIDD] while 19.2% were insulin dependent [IDD]. The onset at the third decade of life represented the highest frequency among IDD and at the fifth decade among NIDD. male to female ratio was 1.8 in both diabetic groups. Blood sugar levels at onset of the disease were significantly higher among IDD than NIDD. Family history of diabetes and parental consanguinity were extremely high among IDD and NIDD, when compared to those of the control. The inbreeding coefficient was higher among the diabetics than the control. Parental consanguinity showed no significant effect on either age of onset or severity of diabetes. Continuous inbreeding was observed in certain families and was found to be related to more diabetic complications. Diabetic offsprings of normal parents, affection of more than one sib in the family and the high frequency of parental consanguinity, suggested autosomal recessive inheritance in the majority of diabetic families. Direct transmission from parent to offspring and the occurrence of diabetes in three successive generations in certain families pointed to autosomal dominant inheritance in such families. The environmental influences were observed to initiate the appearance of diabetes in some cases with positive family history of the disease, indicating a multifactorial inheritance. Heritability studies revealed a major genetic contribution to the etiology of diabetes mellitus. The segregation analysis was inconsistent with autosomal dominance of diabetes in general, but can not be excluded in certain families. While the analysis revealed segregation of recessive gene[s]responsible for the development of diabetes, whether IDD or NIDD. The study suggested genetic heterogeneity of diabetes mellitus [both types], where various genetic defects, with various modes of inheritance were involved. The results were tabulated and discussed

Consanguinity among thalassemia major children

Beta thalassemia results from an autosomal mutant gene which is transmitted by the intermediate mode of inheritance. So marriages between relatives give more chances for harmful homozygosity to occur. It was shown previously in the first study on thalassemia major group that parental consanguinity represented 42.9%. The present study aimed at studying the role of parental consanguinity on a second group of thalassemia major children to follow up the effect of consanguinity on thalassemia. The present sample included 15 thalassemia major children. They were diagnosed according to clinical and electrophoretic studies. The parental consanguinity was studied. It was found to be very high [40%]. This result confirmed the previous result. The obtained data was illustrated and discussed

Bronchial asthma: a genetic study

Asthma is a chronic disorder occurring in all ages, but is more frequent in early childhood. The high frequency of affected relatives [46.8%] denotes that genetics plays a role in its etiology. A strong recessive genetic element was detected as shown by the high frequency of parental consanguinity [44.5%], the normality of both parents in 69.1% of cases and the presence of more than one affected sib in the same family in 20.0% of cases. All the obtained results were tabulated and discussed