jeans
it's on the x-chromosome and its purpose is to Control X-inactivation.
what is XIST?
disorder of cell growth
what is cancer?
it has the genetic karyotype of 47, XXY
what is Klinefelter syndrome?
it is given to the patient to excrete NH3
its yield can decrease at higher temperatures and it is invasive. but it doesn’t have foreign DNA. and its high quality in testing
what is blood?
Underproduction from this gene cluster causes thalassemia
what is a-globin gene?
it is classified by tumor type and type of gene mutation
what is hereditary cancer?
it is characterized by tall stature, long limbs, and loose joints. it is a major autosomal dominant disorder
what is Marfan syndrome
its the only treatment for Zellweger syndrome patients
what is (supportive therapy)?
what is a PCR?
a mutation version of this gene causes sickle cell anaemia
what is glu6val?
Accelerates cell Division.
what are oncogenes?
an autosomal recessive disorder that specifically varies in West Africa
what is sickle cell disease?
its treatment is diet and HMG coenzyme A reductase inhibitors (statins)
what is cholesterol?
this sequencing method targets DNA and its copied many times, making fragments of different lengths with fluorescent ends
what is Sanger sequencing
tumor suppressor gene on chromosome 17.
what is BRCA1?
most common eye tumor in children
what is retinoblastoma?
one of the most common autosomal recessive conditions in europe and is characterized by thick mucous secretion in the lungs, digestive system, and pancreas
what is cystic fibrosis?
it is the treatment for familial adenomatous polyposis
what is panproctocolectomy?
type of study that tracks affected/unaffected individuals through pedigree
what is linkage studies
it is expressed from maternal 15q11
what is UBE3A?
its clinical features are : tumor site in proximal colon predominates, early but variable age at CRC diagnosis
what is HNPCC?
an autosomal dominant disorder, characterized by multiple benign skin tumors, and multiple brown skin patches.
what is (Type 1 neurofibromatosis)?
it is androgen insensitivity syndrome's treatment
what is (excision of gonads)/(female hormone replacement)?
Anonymous DNA markers for genetic loci which have varying sizes of dinucleotides in a repeated sequence, and allow distinguishing of one allele from another by simple PCR assay
what is a Microsatellite?