PATTERNS OF INHERITANCE

Inheritance refers to how genetic information is passed down from one generation to next.

MENDELIAN THEORY OF INHERITANCE

Gregor Mendel : Austrian monk

born in 1822
in monastery known for research and teaching after his death (1884) acknowledgment of his discoveries in 1900

Mendel used peas...

They

reproduce sexually They have two distinct, male and female, sex cells called gametes Their traits are easy to isolate

Mendels Laws of Inheritance

Law

of unit inheritance Law of dominance Law of segregation

Law of Unit inheritance (paired factors/ genes)

Each

organism has two alleles for each trait Eg: TT for tall , and tt for dwarf/ short.

Law of Dominance
The

trait that is observed in the offspring is the dominant allele (uppercase) The trait that disappears in the offspring is the recessive allele (lowercase)

Law of Segregation
The

two alleles for a trait must separate when gametes are formed A parent randomly passes only one allele for each trait to each offspring

MENDELIAN PATTERN OF INHERITANCE

Autosomal

dominant Autosomal recessive Sex-linked inheritance X- linked dominant X- linked recessive Y- linked (holandric)

Autosomal dominant
Gene

is on autosome 1 copy of the mutant gene is needed for effects Males & females are affected in equal number on average. No sex difference in clinical manifestations. Normal offspring of an affected person will have normal children and granchildren

Conti
Later

age of onset is frequent. Male to male transmission is possible. Eg: Huntingtons disease. Colon cancer Marfan syndrome Hereditary breast and ovarian cancer.

Autosomal recessive
2

mutated copies of genes are present in each cell. An affected person usually has unaffected parents who are carriers. No sex difference in clinical manifestations. Consanguinity is present. Age of disease onset is usually early.

Conti
Associated

with particular ethnic

group. Other affected individual in family in same generation (Horizontal transmission) may be seen. Eg: cystic fibrosis , sickle cell anemia, tay-sachs disease, albinism, thalassemia, phenylketonuria

Sex linked inheritance

X

-LINKED DOMINANT: are caused by mutations in genes on the X chromosome. 1 copy of mutant gene is needed for phenotypic manifestations No male to male transmission No carrier state. Affected families usually show excess female offspring (2:1) . Eg: fragile X syndrome.

X- linked recessive
Mutant

genes are located on Xchromosomes. 1 type of mutant gene is needed for phenotypic effect in males. All daughters of the affected males will be carriers, if the mother is normal. All sons of the affected males will be normal , if the mother is normal.

conti
No

male to male transmission. Males are more frequently affected. 2 copies of mutant genes are needed for phenotypic effect in females. Eg: color blindness, Duchenne muscular dystrophy, G6PD deficiency, hemophilia A, B

Y- linked (holandric)
Mutant

genes are located on Ychromosomes. Only male to male transmission. Eg: SRY gene on Ychromosome determines height, male sex tooth enamel & size etc.

NON MENDELIAN PATTERN OF INHERITANCE

Codominant

Mitochondrial
Multifactorial

CODOMINANT
2

different versions (alleles) of a gene can be expressed & each version makes a slightly different protein. Eg: ABO blood group Alpha -1 antitrypsin deficiency.

MITOCHONDRIAL
Also

called maternal inheritance, applies to genes in mitochondrial DNA. Only egg cells contribute mitochondria to the developing embryo so only females pass this condition to offspring. Eg: LHON Lebers hereditary optic neuropathy.

MULTIFACTORIAL
These

are believed to be the cause of multiple mutations and environmental influence that combine to cause birth defects or disease. Eg: CHD, high BP Cleft lip/ palate Neural tube defect Diabetes , Congenital Hip Dislocation