Genetic disorder

A disease or problem present from birth due to genetic abnormalities

These disorders are transmitted in next generation according to the principle of inheritance and can be studied by pedigree analysis. These can be dominant or recessive

Pedigree Analysis

• A technique to study inheritance of traits over several generations in a family.
• It is useful to determine the possibility of an offspring with a genetic disorder.
• To determine weather the trait is dominant or recessive.
• Similarly the trait may also be linked to the sex chromosomes as in case of haemophillia.

Mendelian disorders

Mutation in single gene.
They are transferred to offsprings as per Mendelin principle of inheritance.
Inheritance pattern similar to the principles of mendelian inheritance.
Example :- Haemophilia, sickle cell anaemia, phenylketonuria, colour blindness

Chromosomal disorder

Abnormal arrangement of one or more chromosomes,
Example :- Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome

Autosomal Dominant trait :-
In autosomal dominant trait, the character condition can be seen in parent and then there is 50% of chances of transfer of their defect from parent to offspring may be girl or boy.

Autosomal Recessive trait :-
In this characteristics condition can appear in the progeny of f apparently unaffected | parents.

Sex linked
Dominant,X linked
Recessive,X linked
Y linked