X

Birth Defects - Metabolic Defects

Rating : 12345
Rate This Article : 1 2 3 4 5
G J E 4
A -A +

Metabolic Defects - Glossary

1.Mosaic - An individual with two cell types or more, comprising of different chromosome number or structure

2.Genetic Counselling - A communicative procedure that undertakes to deal with the problems that rise in a family with the occurrence or the risk of occurrence of a genetic abnormality

3.Pedigree - A pedigree involves recording a family's history and making use of a standard set of symbols to represent the status of each member of the family

4.Allele - An allele is an alternative form of a gene loated on a given locus of a chromosome

5.Gene - Genes are located on the chromosomes and carry the information representing a protein

6.Chromosomes - Chromosomes are structures made up of DNA and proteins found in the cells of all organisms.The number of chromosomes is species- specific.In humans it is 46.

7.DNA - The DNA is the basic unit of heredity and is known as the blue print of life.It carries the genetic codes which stores the necessary information for all organisms.

8.Genotype - Genotype indicates the genetic constitution of an organism

9.Phenotype - Phenotype refers to the physical appearance of an organism which is controlled by the genotype and the enviornment

10.Haploid Cell - A cell having only one set of chromosomes,ie.23 numbers in humans

11.Diploid Cell - Having two sets of chromosomes,46 numbers in humans

12.Hybrid - An offspring of parents belonging to two different species,example mule which is the offspring of a horse and donkey

13.Mutation - An inheritable change in the gene or the chromosome

14.Wild Type - An organism having a normal phenotype

15.Mutant - An organism harboring a mutation

16.Trisomy - A condition ,which arises due to the presence of an extra chromosome.An example is Down syndrome, where the individual has an extra chromosome 21

17.Mitosis - A division by which the cells reproduce, wherein the resultant cells are the replica of the parent cell.

18.Meiosis - A special kind of cell division,called reduction division, that takes place in the testes and the ovaries, which produces eggs and sperms that are haploid

19.Consanguinous marriage - A marriage between two closely related individuals

20.Euploidy - When an organism has the regular chromosome number,example 46 numbers in humans, it is euploid.

21.Aneuploidy - When an organism has an abnormal number of chromosomes as in Down Syndrome,it is known as aneuploidy.

Show More Related Topics y

Post your Comments

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
User Avatar
* Your comment can be maximum of 2500 characters
Notify me when reply is posted I agree to the terms and conditions

Ask an Expert

C
If you have a question about health related issues, you can now post it in our Ask An Expert section on our community website Medwonders.com and get answers from our panel of experts.

Join Our Online Health Community:

Recommended Groups Members Related Discussions
By registering with Medindia you become part of our global health community. Make new friends and share and discuss your health issues, with 121328 other members across 445 support groups.

Most Popular News on Medindia

P
M

Latest News on Medindia

D
s Metabolic Defects - Latest Publication and Research
Metabolic Defects - Latest Publication and Researc...
S Metabolic Defects - Other Metabolic Disorders
Metabolic Defects - Other Metabolic Disorders