Basic human genetics 2nd edition

If the gene is on one of the first 22 pairs of chromosomes, called the autosomes, the genetic disorder is called an autosomal condition.

If the gene is on the X chromosome, the disorder is called X-linked. Genetic disorders also are grouped by how they run in families. Disorders can be dominant or recessive, depending on how they cause conditions and how they run in families.

Dominant diseases can be caused by only one copy of a gene having a DNA mutation. For recessive diseases, both copies of a gene must have a DNA mutation in order to get one of these diseases. In such cases, each parent is called a carrier of the disease. They can pass the disease on to their children, but do not have the disease themselves. For example, suppose part of a gene usually has the sequence TAC.

A mutation can change the sequence to TTC in some people. This change in sequence can change the way that the gene works, for example by changing the protein that is made. Mutations can be passed down to a child from his or her parents. Or, they can happen for the first time in the sperm or egg, so that the child will have the mutation but the parents will not.

Single gene disorders can be autosomal or X-linked. For example, sickle cell disease is an autosomal single gene disorder. It is caused by a mutation in a gene found on chromosome Concept and basics of genetics 1. Branches of Genetics 1. Cytogenetics 2. Molecular genetics 3. Biochemical genetics 4. Cancer genetics 5. Immunogenetics 6. Developmental genetics 7. Behavioral genetics 8. Population genetics 4. Genes determine the inherited characters.

XX — in females. For example, hair color, weight, or the presence or absence of a disease. Recessive A dominant allele is expressed even if it is paired with a recessive allele.

A recessive allele is only visible when paired with another recessive allele. Genetic Concepts Y Genetic Concepts a Chromosomal composition found in most female human cells 46 chromosomes b Chromosomal composition found in a human gamete 23 chromosomes 1 2 3 4 5 6 7 XX 8 9 10 11 12 13 14 15 17 18 19 20 21 22 16 1 2 3 4 5 6 7 X 8 9 10 11 12 13 14 15 17 18 19 20 21 22 16 Diploid Haploid Genetic Concepts Allele — G vs g; W vs w At the G locus either the G or g allele may be present on a given homologue of a homologous pair of chromosomes Gene Expression ABO locus To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer.

In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Introducing Genetics pleasantly surprises, not just by the pretty cover, but even more so by the thorough yet concise description of the basic principles in genetics. Alison Thomas has succeeded in writing a basic textbook for teaching genetics to all students for whom the topic is new. Yet it comprises all basic genetic principles from Mendelian monogenetic inheritance to the basis of quantitative and population genetics.

With clear examples and exercises, the reader is taken through the material. All terms and jargon within the field are properly explained and introduced at the moments they become necessary for understanding. Clear drawings and pictures explain the key concepts, and extensive tables listing the different combinations of possible offspring are useful to let the student intuitively grasp the logic behind the different odds for each genotype.

All in all, for the basic concepts i. While the basics are covered very thoroughly, more advanced and recent genetic and genomic advances are lacking, probably with an eye on conciseness. We hope you enjoy this feature! Continue with Facebook. Sign up with Google. Log in with Microsoft. Bookmark this article.

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Basic human genetics Basic human genetics Jorde, L. Basic human genetics Jorde, L.