Doctor insights on:
Genes In Chromosomes
Luck: Mutations are usually luck based. Bad luck. Other non-genetic deformities are often genetic or environmental, but can also be bad luck too. ...Read more
ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read moreSee 1 more doctor answer
Probably all of them: There are a few hundred different genetic loci that produce dwarfism. Achondroplastic dwarfism is usually the result of a mutation on chromosome 4. ...Read more
Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more
8.6k genes on chrom: We have 20,000 genes on our 23 chromosomes. We have 2 copies of each chromosome except for the 23rd pair (X & Y in males and X & X in females). A gene mutation affects a single gene on one copy of one chromosome. A chromosomal abnormality affects many genes . It may be a 3rd copy or just a single copy of part/all of a chromosome or a 'translocation' can place part of a chromosome onto another. ...Read more
When the spermatogonial stem cell get mutated by chemicals, if the mutated sperm fertilize the egg, will the child have de novo genetic defect?
Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?
No: Gene mutations are still being researched and from my opinion, I don't think we're even close to scratching the surface of the miraculous human genome. That being said, mutations are a normal part of our evolution. Is therea reason you're concerned? If we know, you will likely get an answer sooner. ...Read more
Mostly genetic: Neurofibromatosis is a mostly inherited problem or mutation with degrees involvement from mild to severe. NF t autosomal dominant pattern of inheritance. People are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. Remaining cases result from new mutations in the NF1 gene, ...Read moreSee 3 more doctor answers
Multiple: Multiple genes with variable expression could be from mother or father, or both. ...Read more
Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read moreSee 1 more doctor answer
Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more
Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more
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