Archive | Human Genetics

Rules Regarding Recording a Pedigree | Genetics

In this article we will discuss about the rules regarding the recording a pedigree. A detailed health history of the family is the basic prerequisite for any form of genetic counselling and it is essential to have detailed information about the patient's (supposed to have any genetic abnormality or disease) relatives. A detailed pedigree gives us the necessary basic information [...]

By |2016-12-12T07:34:23+00:00December 12, 2016|Human Genetics|Comments Off on Rules Regarding Recording a Pedigree | Genetics

Synthesis of Haemoglobin | Genetics

In this article we will discuss about the control of the synthesis of haemoglobin. 1. The Control of the Rate of Synthesis of the Peptide Chains. i. Rate of synthesis of Normal pep­tide chains: Approximately 95% of the red cell protein is haemoglobin. The peptide chains of haemoglobins are thus synthesized at a rate much higher than that of any [...]

By |2016-12-12T07:34:23+00:00December 12, 2016|Human Genetics|Comments Off on Synthesis of Haemoglobin | Genetics

Genetics of Thalassemia

In this article we will discuss about the genetics of thalassemia. There are two main types of thalas­semia: α-thalassemia — resulting from a reduced rate of α-chain; β-thalassemia — resulting from a defective production of β-chains. More recently, family studies have revealed a heterogeneity of both α and β- thalassemia which is discussed in the Table 15.1. The β-thalassemias are [...]

By |2016-12-12T07:34:23+00:00December 12, 2016|Human Genetics|Comments Off on Genetics of Thalassemia
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