biochemical genetics


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genetics

 [jĕ-net´iks]
the branch of biology dealing with the phenomena of heredity and the laws governing it.
biochemical genetics the study of the fundamental relationships between genes, protein, and metabolism. This involves the study of the cause of many specific heritable diseases. These include those resulting from the improper synthesis of hemoglobins and protein, such as sickle cell disease and thalassemia, both of which are hereditary anemias; some 200 inborn errors of metabolism, such as phenylketonuria and galactosemia, in which lack or alteration of a specific enzyme prohibits proper metabolism of carbohydrates, proteins, or fats and thus produces pathologic symptoms; and genetically determined variations in response to certain drugs, for example, isoniazid.
clinical genetics the study of the causes and inheritance of genetic disorders. In addition to the diseases mentioned under biochemical genetics, other aspects of clinical genetics include the study of chromosomal aberrations, such as those that cause mental retardation and down syndrome, and immunogenetics, or the genetic aspects of the immune response and the transmission of genetic factors from generation to generation.

Many pediatric hospital admissions involve genetic disorders. In obstetrics and neonatal medicine, prenatal diagnosis of genetic defects and improvement of pre- and perinatal conditions are a major concern. In adults, such diseases as breast cancer, coronary artery disease, hypertension, and diabetes mellitus have all been found to have predisposing genetic components that are relevant to identification of risk factors and early diagnosis.

bi·o·chem·i·cal ge·net·ics

the study of genetics in terms of the chemical (biochemical) events involved, as in the manner in which DNA molecules replicate and control the synthesis of specific enzymes by the genetic code.
References in periodicals archive ?
You have been working in the domain of biochemical genetics. What is your opinion about genetically modified organisms (GMOs)?
For the developmental programmes biochemical genetics permits the evaluation of the degree of homozygosity and the genetic similarity of populations making designed crossings more likely to be productive.
Ed Wraith, M.D., of the Willink Biochemical Genetics Unit at the Royal Manchester Children's Hospital, Manchester, UK, and one of the trial's clinical investigators, presented findings from both the double-blind and extension study portions of the Phase 3 trial the International Symposium on Mucopolysaccharide and Related Diseases in Paris, France.
Iryani got degrees from the US universities of Texas, Georgia and Yale, ending with a PhD in biochemical genetics. He began his career as director of Wadi Zeid Agricultural Project, 1968-69.
Michael Gibson, PhD, SACMG, associate professor molecular and medical genetics and pediatrics, and director of Biochemical Genetics Laboratory, Oregon Health Science University Research), indicates that many children who are diagnosed with cerebral palsy, autism, seizure disorders, and mental retardation and other developmental delays may potentially have a disease of neurotransmitter metabolism.
Section 3, Biochemical Genetics, has nearly doubled in total numbers of abstract since 1984, with a 91.8 percent increase.
Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms.
She finished a residency in medical genetics at Nationwide Childrens Hospital in Columbus, Ohio, and a fellowship in medical biochemical genetics at Childrens Hospital of Pittsburgh of UPMC in Pittsburgh, Pa.
There are also chapters on biochemical genetics, neurodevelopment, and nutrition support.
Breslow, head of the Laboratory of Biochemical Genetics and Metabolism, says that this study brings a new level of understanding to an enzyme called HMGCR, the rate-limiting catalytic engine of cholesterol biosynthesis and the target of the much-revered cholesterol-lowering drugs known as statins.

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