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Chapter-35 Genetics in Pediatric Practice

BOOK TITLE: The Short Textbook of Pediatrics

Author
1. Gupte Suraj
2. Frank S
ISBN
9788184484694
DOI
10.5005/jp/books/10983_35
Edition
11/e
Publishing Year
2009
Pages
15
Author Affiliations
1. Maharaja Agrasen Medical College, Agroha, Hisar, India, Mamata Medical College and General and Super Specialty Hospitals, Khammam, Telangana, India, Mamata Medical College/Mamata General and Superspeciality Hospitals, Khammam, Telangana, South India, Mamata Medical College/Mamata, General and Superspecialty Hospitals, Khammam, Telangana, India, Postgraduate Department of Pediatrics Mamata Medical College and Hospital Khammam, Andhra Pradesh, India, Mamata Medical College/Mamata General and Superspecialty Hospitals, Khammam 507002, Andhra Pradesh, India, Mamata Medical College/Mamata General and Superspecialty Hospitals, Khammam, Andhra Pradesh, India, Mamata Medical College and Hospitals, Khammam, Andhra Pradesh, India, Narayana Medical College/Narayana General and Superspeciality Hospitals, Nellore 524002, AP, South India, Narayana Medical College and Hospital, Nellore, AP, India, Narayana Medical College/Narayana General and Superspeciality Hospitals, Nellore, Andhra Pradesh (India), Children’s Health Cen
2. Institute of Child and Adolescent Health, London, UK, Institute of Child and Adolescent Health, London, United Kingdom
Chapter keywords

Abstract

The Chapter takes off by defining the term, genetics, and listing its important applications and stating that “molecular genetics has revolutionized the whole field of medicine with fast-increasing understanding of the heritable disorders and advances in approach to diagnosis, genetic counseling and screening of subjects at risk of genetic disease.” The field promises the treatment of the diseases through direct correction of a mutation at DNA level. In some cases, it may well be possible to replace a normal or modified gene for an erratic gene. The so-called “gene therapy” is now in the thick of a remarkable breakthrough. From here onwards, the Chapter deals with certain fundamental facts about organization of genetic equipment, applications of this knowledge in genetic disorders, gene therapy and genetic counseling. Also included in the chapter are the “inborn errors of metabolism” such as phenylketonuria, albinism, alkaptonuria, maple syrup urine disease, Hartnup disease, Tyrosinemia, Galactosemia, glycogen storage disease, Gaucher disease, Niemann-Pick disease and various mucopolysaccharidosis. IEMs are the consequence of mutations in the DNA which code for a specific protein that acts as an enzyme, receptor, transport vehicle, membrane pump or structural element. Important information on prenatal diagnosis and dermatoglyphics is also incorporated.

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