Contoh penyakit akibat point mutation : Sickle cell anaemia

Huntingtons Disease
Huntington's disease (HD) adalah penyakit menurun berupa kelainan degenaratif otak yang berakibat kepada penurunan kemampuan mental dan pengendalian fisik.

Huntingtons

Classification of genetic disorders

Multifactorial Single gene Chromosomal
Male

+ environment

Mitochondrial Somatic mutations (cancer)

Kleinfelters syndrome
(or Klinefleters)

Kelainan yang disebabkan gagal memisahnya X chromosome. Sperma terdiri atas kromosom X dan Y yang menyatu dengan krosomosom X dari telur menghasilkan bayi laki-laki.

XXY
Males with some development of breast tissue normally seen in females. Little body hair is present, and such person are typically tall, have small testes. Infertility results from absent sperm. Evidence of mental retardation may or may

not be present.

Klinefelters

Turners Syndrome

Sindrom Turner
Hanya pada wanita Leher dan dada lebar. Perkembangan organ reproduksi terhambat Mental retardation

Albinism
Patients are unable to produce skin or eye pigments, and thus are light-sensitive Autosomal recessive