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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Bernard Sachs. Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
Familial Mediterranean fever. Familial Mediterranean fever has an autosomal recessive pattern of inheritance. Specialty. Rheumatology, Immunology. Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. [1]: 149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid ...
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. [1] The diseases are not restricted to Finns ...
Health among the Amish. Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, [1] Angelman syndrome, [2] and various metabolic disorders, such as Tay-Sachs disease, [3] as well as an unusual distribution of blood types. [4]
Medical genetics of Jews. The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly ...
The foremost pioneer of the study of population genetics was Luigi Luca Cavalli-Sforza.Cavalli-Sforza used classical genetic markers to analyse DNA by proxy. This method studies differences in the frequencies of particular allelic traits, namely polymorphisms from proteins found within human blood (such as the ABO blood groups, Rhesus blood antigens, HLA loci, immunoglobulins, G-6-P-D ...
Genetic studies by Miriam Murphy, David Croke, and other researchers identified certain genetic diseases such as galactosemia that are more common in the Irish Traveller population, involving identifiable allelic mutations that are rarer among the rest of the community. Two main hypotheses have arisen, speculating whether: