Perkembangan Mutakhir Genetika Biomolekuler pada Autisme

Teresa Liliana Wargasetia

Abstract


For the past few decades it has been known that autistic abnormalities are hereditary. In order to determine what genes are involved in autism, researchers carry out genome screening by means of chromosome maps and markers. Markers that are consistently found in the patient’s family members give indication as to which chromosome contains candidate genes that are related to the markers. Candidate genes are studied in two ways, namely on the basis of location and function of the genes. Researchers test the existence of mutation in candidate genes. If mutation is found in the patient’s genes, it means that those candidate genes cause abnormalities in the patient. For the past few years researchers have studied 5 chromosomes, namely 2, 3, 7, 15 and X, and candidate genes, namely GABA, UBE3A, GATI, OXTR, FOXP2, WNT2 and RELN. Testing has been made on a great number of genes but no satisfactory result has been achieved and further analysis is still required. However, researchers have recently succeeded in finding out a complete human genome map so that genes that are related to the disease can be more easily identified. Behind the taxing effort and toil in the biomolecular genetic study of autism, there are great hopes that the study will succeed in providing answers to the questions concerning the causes, preventive measures and treatment of autistic abnormalities.

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