Which disease is caused by chromosomal mutation?

Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.

What mutation causes sickle cell anemia?

Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11.

What chromosome is affected by sickle cell anemia?

Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body.

What are chromosomal abnormalities?

A chromosomal anomaly is a change to a child’s genetic material or DNA, which alters the baby’s development before birth. This can include extra, missing or irregular chromosomes.

What is chromosome mutation?

Chromosome structure mutations are alterations that affect whole chromosomes and whole genes rather than just individual nucleotides. These mutations result from errors in cell division that cause a section of a chromosome to break off, be duplicated or move onto another chromosome.

What is a chromosomal mutation?

What are the 4 chromosomal abnormalities?

Some chromosomal abnormalities occur when there is an extra chromosome, while others occur when a section of a chromosome is deleted or duplicated. Examples of chromosomal abnormalities include Down syndrome, Trisomy 18, Trisomy 13, Klinefelter syndrome, XYY syndrome, Turner syndrome and triple X syndrome.

What are the 4 types of chromosome mutations?

The four main types of structural chromosomal aberrations are deletion, duplication, inversion, and translocation. Deletions occur when a portion of the chromosome is deleted, or taken out, which can make that chromosome less functional.