13: Human Genetics

Last updated
Save as PDF

Page ID: 38034

\( \newcommand{\vecs}[1]{\overset { \scriptstyle \rightharpoonup} {\mathbf{#1}} } \) \( \newcommand{\vecd}[1]{\overset{-\!-\!\rightharpoonup}{\vphantom{a}\smash {#1}}} \)\(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\) \(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\)\(\newcommand{\AA}{\unicode[.8,0]{x212B}}\)

Learning objectives

Introduction to human genetics and genetic testing

Understand how the following studies are performed and what kind of genetic information can/canʼt be obtained from each: karyotype, FISH, array CGH, Southern, Northern, and Western blots.
Be able to select the appropriate technique (from the list above) to study chromosomes, chromosome segments containing several genes or single genes, microsatellites/copy number variants, DNA mutations/sequence alterations, RNA, and proteins.
Understand how genes can be cloned using either a vector or PCR.
Be able to describe both Sanger sequencing and "shotgun sequencing".
Be able to describe the information obtained from whole exome sequencing.

Genetics methodology

Understand how the following studies are performed and what kind of information can/can't be obtained from each: exome, Sanger sequencing, microarray, RFLP analysis, and FISH.
Use the genetic code table to construct a protein sequence.
Become familiar with DNA sequence variant nomenclature.

The human genome project was a collaborative effort to sequence the human genome with the general idea that we would be able to identify all the genes coded for in DNA and determine how all genes functioned. This global understanding would change the way diseases are diagnosed and treated. When the project concluded in 2003, it was clear that DNA sequence was only a single piece of this equation, and just knowing what genes are present does not give a clear picture of how genes are expressed and regulated. What it has illustrated is that the modalities of inheritance and genetic influence over human phenotype is more complex that previously appreciated.

Thumbnail: Grey, Kindred, Chapter 13. 2021. Public domain. Adapted from Karyotype (normal) by National Cancer Institute. Public domain. From Wikimedia Commons.