Mutation

Looks at consequences of a mutation in RAG proteins  

This is the most common life-limiting inherited disease in Caucasians. It is caused by a genetic mutation that alters mucus production, resulting in a more viscous solution. It is autosomal recessive.   Life expectancy is improving. Newborns with CF have a life-expectancy of about 40 years. The condition is inherited in an autosomal recessive pattern.   Epidemiology Most common in Caucasians, rare in other races.    

Chromosomal Abnormalities Chromosomal abnormalities are a very common cause of spontaneous miscarriage. Most commonly a child with a chromosomal abnormality will not survive to birth. However, there are many cases where the child will survive, although often they have severe disability in life. The normal rate of miscarriage in the general population is 15%. Miscarriage does not become statistically significant unless one particular woman has >3 instances.  

Sickle cell disease is an inherited genetic disorder and is a recessive trait. This video describes how the genetic mutation causing sickle cell disease is p...  

Sometimes an immature blast cell have two gene mutations which prevent it from maturing into a specialized blood cell and cause it to multiply out of control...  

This animation describes how mutations acquired by the HIV reverse transcriptase enzyme can effectively prevent NNRTI medicines from being able to bind to it...  

Cancer is somewhat like an evolutionary process. Over time, cancer cells accumulate multiple mutations in genes that control cell division. Learn how dangerous this accumulation can be.  

Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.  

Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.  

ResearchToPractice.com/VPC109 - Case 4: A 61-year-old woman with a 1.5-cm, K-ras mutation-positive, biopsy-proven metastasis to the lung 3.5 years after resection and chemoradiation therapy for rectal cancer. Interviews conducted by Neil Love, MD. Produced by Research To Practice.  

© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Somatic Mutations in Cancer Thi…  

X-linked recessive condition, deficiency of factor VIII, prevalence 1 in 10,000 Range of possible mutations, 30% of cases due to sporadic mutation Low factor VIII levels predispose to bleeding – risk proportional to factor VIII level Mild disease (11-30 units/dl) risk after significant trauma/surgery Moderate disease (2-10 units) - minor trauma  

There are two types of neurofibromatosis, both inherited in an autosomal dominant manner, although some cases arise from spontaneous mutation. It results in benign tumours of the nervous system and bony and dermatological deformities.   Type I Neurofibromatosis – NF1 – aka von Recklinghausen’s disease  

So called as there is a ‘fragile site’ on the X chromosome. This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a trinucleotide expansion mutation, but is usually inherited in an X-linked recessive pattern.  Fragile X syndrome is the second most common cause of genetic learning difficulty after Down’s Syndrome.    

How somatic mutations can lead to cancer.  

Discuss the effects of cancer, as they relate to the underlying cell physiology. In particular, we discuss how genetic mutations lead to the creation of aber...  

Sickle cell disease is an inherited genetic disorder and is a recessive trait. This video describes how the genetic mutation causing sickle cell disease is p...  

How somatic mutations can lead to cancer.