hdl1 is the type of genetic mutation that causes huntington's disease.
hdl1 is the type of genetic mutation that causes huntington's disease.
what type of genetic mutation is huntington's disease?
hdl1
feline hypertrophic cardiomyopathy (hcm) is the most common heart disease in domestic cats; the disease process and genetics are believed to be similar to the disease in humans. in maine coon cats, hcm has been confirmed as an autosomal dominant inherited trait. numerous cat breeds have hcm as a problem in the breed. the first genetic mutation (in cardiac myosin binding protein c) responsible for feline hcm was discovered in 2005 in maine coon cats. a test for this mutation (a31p) is available. about one-third of maine coon cats tested for the mutation are either heterozygous or homozygous for the mutation, although many of the cats that are heterozygous have no overt evidence of the disease on an echocardiogram (low penetrance). some maine coon cats with clinical evidence of hypertrophic cardiomyopathy test negative for this mutation, strongly suggesting that another cause exists in the breed. the cardiac myosin binding protein c mutation identified in maine coon cats has not been found in any other breed of cat with hcm, but more recently another myosin binding protein c mutation has been identified in ragdoll cats with hcm. as in humans, feline hcm is not present at birth but develops over time. it has been identified for the first time in cats as young as 6 months of age and at least as old as 7 years of age.
hypertrophic cardiomyopathy
meguid first discovered the prevalence of fragile x mutation among egyptian males. the mutation occurred 0.9 per 1000 egyptian males. there was a 6.4% prevalence that the mutation would occur in males who were mentally subnormal. meguid determined that the high prevalence of fragile x in arab mentally subnormal males may be a result of awareness or diagnoses of the disease. egyptian males had a late recognition of this genetic mutation past their childhood. the genetic mutations could be predicted as the disease was related to an increased percentage of consanguineous marriages in the arab population. a delayed awareness of the genetic mutation was also a common cause of other disorders related to mental subnormality. meguid concluded that the high prevalence of fragile x syndrome should promote special education for those affected. she suggested that an individualized treatment plan starting in preschool could allow students to be more successful in their educational years.
nagwa abdel meguid