Medical Genetics

Human Genetic Technologies in International Contexts: Local Ideas, Cultures and Concerns in Comparison.

by Bettina Bock von Wülfingen

in: Michael Fischer, Markus Hengstschläger (ed.) 'Ethik transdisziplinär: ‚Genetic Screening’', Frankfurt am Main: Peter Lang 2010, pp. 367-384.

Public Awareness about Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Bahrain

by Amani Al Hajeri

دراسة مدى وعي العامة عن مرض نقص الخميرة في البحرين
for citation: Shaikha Al Arrayed, Amani Al Hajeri.Public Awareness about Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Bahrain
Bahrain Medical Bulletin. 2011. 33(3):147-149.

Objective: To evaluate public awareness level of G6PD deficiency in Bahrain.
Design: Cross sectional survey. more Objective: To evaluate public awareness level of G6PD deficiency in Bahrain.
Design: Cross sectional survey.
Setting: Bahrain Schools, Public Gathering Centers (commercial malls and others).
Method: A questionnaire was distributed among 2000 individuals from the public (nonprobability
convenience sample). It was conducted from December 2006 to February 2007. The
participants were personally interviewed by a health professional or a trained interviewer.
Result: One thousand eight hundred fifty-nine (93.9%) has heard of G6PD deficiency and
1,586 (79.8%) recognized it as a blood disease, only 690 (34.7%) recognized it as a gender
related disease. One thousand seven hundred three (85.7%) knew that fava bean ingestion can
be a triggering factor for hemolysis in affected individuals. Females showed better knowledge
than males and married persons seem to know more about G6PD deficiency than unmarried.
Conclusion: The study revealed a good level of knowledge of G6PD deficiency. Some of the
respondents were confused about the pattern of inheritance. Females are more knowledgeable
of the disease, which affects mainly males, and married individuals seem to know more than
singles. There is a general acceptance of hemoglobinopathies prevention campaigns, which is
conducted in Bahrain, such as the premarital service and the student-screening program.

Teaching Medical Genetics in Nepal

by Jane Gair

The Journal of International Experience - inaugural publication

Putting the personal in personalized medicine

by Nathaniel Comfort

Exploring the nature of the medical individual. Beginning with the ancient concept of diathesis, I trace how... more Exploring the nature of the medical individual. Beginning with the ancient concept of diathesis, I trace how constitution, heredity, and idiosyncrasy have developed in medicine, on down to contemporary personalized medicine. I show how racial distinctions have always been a part of efforts to understand medical idiosyncrasy and polymorphism, and question the current dogma that race is an intermediate step on the way to a medical approach that treats each patient as genetically unique. In short, science cannot by itself eliminate the notion of race; so long as race exists in our culture, it will imprint itself on our science.

Clinical assessment incorporating a personal genome

by Rong Chen

Likelihood ratios for genome medicine

by Rong Chen

Current concepts in genetics of nonsyndromic clefts.

by Bhaskar VKS Lakkakula Lakkakula

Jyotsna Murthy, L. V. K. S. Bhaskar. Indian J Plast Surg Jan-June 2009 Vol 42 Issue 1

Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype, largely attributed to the... more Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype, largely attributed to the interactions of the environment and multiple genes, each potentially having small effects. Numerous genes have been reported in studies demonstrating associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factors, growth factors, cell signalling and detoxification metabolisms. Although the studies reporting these observations are compelling, most of them lack statistical power. This review compiles the evidence that supports linkage and associations to the various genetic loci and candidate genes. Whereas significant progress has been made in the field of cleft lip and palate genetics in the past decade, the roles of the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype remain to be determined.

Genetic Studies of Autosomal Recessive Primary Microcephaly In 33 Pakistani Families: Novel Sequence Variants In ASPM Gene

by Saqib Mahmood

GENETIC STUDIES OF DUCHENENE MUSCULAR DYSTROPHY AND PRIMARY MICROCEPHALY IN PAKISTANI POPULATION

by Saqib Mahmood

Intragenic Deletions In the Dystrophin Gene In 211 Pakistani Duchenne Muscular Dystrophy Patients

by Saqib Mahmood

A Recurrent Intragenic Deletion Mutation In DSG4 Gene In Three Pakistani Families With Autosomal Recessive Hypotrichosis

by Saqib Mahmood

Serum Melatonin Level and Oxidative Stress In Sickle Cell Anemia

by Edis Belini Junior

This study evaluated serum melatonin levels in patients with sickle cell anemia (SCA) and compared the results to... more This study evaluated serum melatonin levels in patients with sickle cell anemia (SCA) and compared the results to lipid peroxidation by determining thiobarbituric acid-reactive substances (TBARS) and Trolox equivalent antioxidant capacity (TEAC). The group studied was composed of 15 SCA patients and 24 subjects without hemoglobinopathies. The average melatonin level was significantly reduced in the SCA patients (p<0.001) when compared to the control group. The SCA patients showed significantly higher values for TBARS and TEAC when compared to values obtained for the control group (p<0.001 and p<0.01). Results from the correlation analysis in the SCA group were not statistically significant for any parameters except for TBARS and TEAC levels, which had a positive correlation (r=0.51; p=0.04), suggesting the participation of melatonin in antioxidant defense. The use of melatonin could be a possible therapeutic target for improving antioxidant defense and to reduce oxidative damage, alleviating symptoms associated with SCA

The Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features

by Edis Belini Junior

We report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not... more We report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not using hydroxyurea and was not receiving regular blood transfusions. The patient never had chronic manifestations of sickle cell anaemia, only pain crises of a mild intensity. After laboratory tests, we found that she was homozygous for HbS with the Bantu/atypical haplotype, and was heterozygous for the Xmnl site. The influence of the Xmnl site on the expression of HbF can explain the amelioration in clinical features in this haplotype association in a case of sickle cell anaemia

The profile of beta thalassemia obtained by data mining analysis in a database

by Edis Belini Junior

Thesis Abstract-Oxidative stress in sickle cell patients: influence of haplotypes and specific medication

by Edis Belini Junior

'Polyhybrid heterogeneous bastards': promoting medical genetics in America in the 1930s and 1940s

by Nathaniel Comfort

J Hist Med Allied Sci 61, no. 4 (2006): 415-55

I examine three American researchers in the 1930s and 1940s who populate the no-man’s-land of medical genetics,... more I examine three American researchers in the 1930s and 1940s who populate the no-man’s-land of medical genetics, between the heyday of “mainline” eugenics and the medical turn in human genetics in the 1950s. In scientists’ narratives, William Allan, Madge Macklin, and Laurence Snyder appear as pioneers of medical genetics and genetic education. Allan was a country doctor with an interest in heredity. Snyder, a Harvard-trained geneticist, entered medical genetics through population-genetic studies of human blood groups. Macklin came from a background in academic medicine. Allan, Snyder, and Macklin believed in a genetic approach to medicine well before genetics offered clinical benefits. Although hereditary diseases had begun to overtake infectious diseases as causes of death and illness, formal genetics offered medicine little more than a few explanatory principles. These researchers made their case by a) listing mostly hopeful potential applications of genetics to disease; b) blurring the distinction between genetics and heredity; and c) engaging in preventive genetic medicine, that is, eugenics. Examining their careers reveals some of the texture of eugenic thought in American medicine as well as the continuities between the early eugenic phase of human genetics and the professional medical genetics that today’s practitioners take as the origin of their field.