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What gene is responsible for CMT1A?
CMT1A is caused by a duplication of the PMP22 gene on chromosome 17. The extra copies of this gene lead to overproduction of the myelin protein, causing the symptoms of Charcot-Marie-Tooth disease type 1A.
What chromosome does tay-sachs disease affect?
Tay-Sachs disease is caused by mutations in the HEXA gene located on chromosome 15. These mutations result in the absence or deficiency of the enzyme hexosaminidase A, leading to the accumulation of harmful substances in the brain and nervous system.
Which gene or chromosome is it found on or is affected by hypertrichosis?
There are several depending on the type. Congenital hypertrichosis lanuginosa may be caused by an inverse mutation on the 8q chromosome. Congenital generalized hypertrichosis has a dominant pattern of inheritance and has been linked to chromosome xq24-q27. Congenital generalized hypertrichosis terminalis is thought to be caused by genetic changes on chromosome 17. The gene MAP2K6 may be a factor contributing to this condition.
What is a locus?
LociA locus (plural loci) is the position on a chromosome where a gene is found. A useful analogy would be the address - 'Gene for brown eyes' is the name, '23rd gene' is the house number, 'Chromosome 4' is the street. (these are not necessarily true for this gene)A link can be found below.
What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
Sox 9 gene is present on which chromosome?
17
What gene is responsible for CMT1A?
CMT1A is caused by a duplication of the PMP22 gene on chromosome 17. The extra copies of this gene lead to overproduction of the myelin protein, causing the symptoms of Charcot-Marie-Tooth disease type 1A.
What chromosome does tay-sachs disease affect?
Tay-Sachs disease is caused by mutations in the HEXA gene located on chromosome 15. These mutations result in the absence or deficiency of the enzyme hexosaminidase A, leading to the accumulation of harmful substances in the brain and nervous system.
Which gene or chromosome is it found on or is affected by hypertrichosis?
There are several depending on the type. Congenital hypertrichosis lanuginosa may be caused by an inverse mutation on the 8q chromosome. Congenital generalized hypertrichosis has a dominant pattern of inheritance and has been linked to chromosome xq24-q27. Congenital generalized hypertrichosis terminalis is thought to be caused by genetic changes on chromosome 17. The gene MAP2K6 may be a factor contributing to this condition.
What chromosome does Neurofibromatosis effects?
WOW!! That guy is amazing. A chicken? Histerical, Neurofibromatosis affects only chromosome number 23. It also will affect the brain and is an autosomal dominant genetic disorder.It is when your chromosome has a chicken.
What genes are responsible for neuronal migration disorders?
The most well characterized genes include DCX on the X chromosome, responsible for double cortex syndrome, and LIS1 on chromosome 17, the first gene identified for lissencephaly.
What is a locus?
LociA locus (plural loci) is the position on a chromosome where a gene is found. A useful analogy would be the address - 'Gene for brown eyes' is the name, '23rd gene' is the house number, 'Chromosome 4' is the street. (these are not necessarily true for this gene)A link can be found below.
What causes Alexander disease?
Most cases of Alexander disease are genetic, caused by a dominant mutation (change) in the glial fibrillary acidic protein (GFAP) gene on chromosome 17.
Name of 17 th chromosome in human?
metacentric
What chromosome pair is affected by marfan syndrome?
17
What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
What is the 17Th human chromosome?
The 17th human chromosome is known as chromosome 17. It is one of the 23 pairs of chromosomes in humans and contains around 1,200 genes. Chromosome 17 is associated with various genetic disorders and traits, including Smith-Magenis syndrome and hereditary breast and ovarian cancer.
