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Chapter 5 - Genetics in Fetomaternal Medicine

from Section 1 - Basic Sciences in Obstetrics

Published online by Cambridge University Press:  20 November 2021

Tahir Mahmood
Affiliation:
Victoria Hospital, Kirkcaldy
Charles Savona Ventura
Affiliation:
University of Malta, Malta
Ioannis Messinis
Affiliation:
University of Thessaly, Greece
Sambit Mukhopadhyay
Affiliation:
Norfolk & Norwich University Hospital, UK
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Summary

Over the past 160 years there have been many relevant breakthroughs and discoveries allowing the features that underlie both common and rare genetic conditions to be understood. The father of modern genetics, Gregor Mendel, provided an early recognition of human genetic variability using basic modes of inheritance after studying Pisum sativum, the common pea plant, in 1865 [1]. In 1953, James Watson and Francis Crick went on to describe the double helix structure of DNA [2]. This was then followed by the discovery of sequence reactions by Sanger and Coulson [3]. and the polymerase chain reaction technique by Mullis et al [4], which in turn helped make genome sequencing possible. The Human Genome Project was then completed on 21 October 2004, supplying the nucleotide sequence of all chromosomes [5].

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Chapter
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The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology
Obstetrics & Maternal-Fetal Medicine
, pp. 38 - 44
Publisher: Cambridge University Press
Print publication year: 2021

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