文档介绍：05 疾病的单基因遗传 Monogenic Inheritance
single-gene disorder or
monogenic disorder
Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases.
Basic Pattern of Single Gene Inheritance
Autosomal Dominant
Autosomal Recessive
X-linked Dominant
X-linked Recessive
Y-linked
1. Pedigree and Proband
Humans are unique anisms in many ways, but one way which is near and dear to a icist's heart is that humans are not susceptible to ic experimentation.
The study of inherited Mendelian traits in humans must rely on observations made while working with individual families.
Classical cross fertilization breeding experiments as performed by Mendel are not allowed in humans! Human icists are not allowed to selectively breed for the traits they wish to study!
One of most powerful tools in human ic studies is pedigree analysis.
pedigree
They are graphic representations of a family tree which show the biological relationship of the index case, or proband or propositus to the rest of the individuals.
A family tree diagram that shows how a particular ic trait or disease has been inherited.
When human icists first began to publish family studies, they used a variety of symbols and conventions. Now there are agreed upon standards for the construction of pedigrees.
Symbols