Friday, 29 July 2011

History of Medical Genetics I

Before Mendel time (1)

The study of inherited disorders represents the core of medical genetics. It is quite clear, however, that specific observations on inherited disorders and more general thoughts about human inheritance have been at the fore-front of concepts of heredity at the very beginning, and do not represent just an afterthoughts o nlate arrival.

The period of before Mendel is the entire period up to the end of the 19th century, during the latter part of which Mendel's work already existed but remained unknown, and have left a discussion of Mendel's own contribution at the end.

Early family reports of some disorders now recoginzed as following Mendelian Inheritance Patterns

Autosomal dominant
Double Thumb                                  Digby 1645
Polydactyly                                       Maupertius 1753
Progressive blindness                        Martin 1809

Autosomal recessive
Albinism                                           Wafer 1699
Congenital deafness                          WIlde 1853
Congenital cataract                           Adams 1814

Color blindness                                Dalton 1798
Hemophilia                                       Otto 1803
Dechenned Muscular Dystrophy       Meryon 1852

Source: A Short History of Medical Genetics: Peter Harper

No comments: