Autosomal Dominant:

  • A child or a person can inherited when one parent has a mutation in one gene.
  • 50% Risk of passing to next generation.
  • It is not related to sex.

Autosomal Recessive:

  • A child or a person can inherited when both parent have a mutation in one gene.
  • 25% risk of passing to next generation.
  • A child or a person can be a carrier.

Autosomal:

Means non-sex chromosome, it can locate on any number of the gene. Therefore human chromosome (1-22).

Precision Medicine:

Precision medicines are the studying of individual DNA. Sequencing of a genome includes blood or saliva. Where its involve deep analyzing of chromosomes and the probability that individual will develop the disease over their lifetime.

In a rare disease where doctors or specialists are unable to conclude a specific disease then DNA is collected from the patient, then routine clinical diagnosis and genomic analysis are used to narrow down the genetic diseases.

Therefore, normal human DNA consists of 23 pairs of chromosomes and approximately 6.4 billion base pairs. The base pair is represented by the letter A,C,T, G.

Compound Heterozygous (CH):

A compound heterozygous (CH) means that each parent gives one alternate allele and the location of alleles are at different loci within the same gene. Two mutated alleles are required for the disease to be expressed.

Compound Heterozygous

More coming soon!