Question 1

can i be diagnosed with gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 ugt1a1 gene analysis came normal (no mutations)?

Accepted Answer

PossibleOtherVariant: Although your 1&amp;2 UGT1A1 Gene analysis is normal.This variant account for 50%of alleles in many populations.However several allallelic polymorphic variants of this region occur.The most common of which results from adding another dinucleotide repeat TA to the promotor region resulting in A(TA7)AA .So there are other variants in people from south east asia,East Asians and pacific islanders

Question 2

currently based on calculation i should ovulated cd16 - cd21. i have used opk test kit n show positive on cd 13-16. on 16 i had white egg discharge.

Accepted Answer

Good sign: The egg white discharge is probably cervical mucous that is showing the effects of the hormonal changes we see at time of ovulation.  Some of us older providers used to do a test of the mucous called a spinnbarkeit test to assess the "stretchiness" of the cervical mucous.  The other was checking for "cervical ferning" by placing mucous on slide, allow to dry and look under microscope for ferns.

Question 3

what is lamin a/c mutation and how is it treated?

Accepted Answer

It cannot be treated: Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Mutations in the lmna gene are associated with several diseases, including muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, charcot-marie-tooth disease,  and others.

Question 4

what is the definition or description of: mutation?

Accepted Answer

Mutation is a change: In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna by mobile genetic elements.

Question 5

how would mutations have both positive and negative impacts?

Accepted Answer

Good and bad effects: Mutations are genetic changes that can eliminate a problem, cause a problem or introduce a new solution to the environment.  Since most mutations create problems, they have achieved a bad name.  But most evolutionary change comes about from the effects of new mutations.

Question 6

how can mutations create new traits?

Accepted Answer

New protein: Most mutations are problematic and create difficulty or are eliminate with normal bodily defenses.  Rarely a mutation makes a new protein which has a useful function manifested as a change in the body or metabolism which confers and advantage and will therefore likely survive to the next generation.

Question 7

what type of mutation causes hemophilia?

Accepted Answer

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix.

Question 8

could hemophilia occur due to a mutation?

Accepted Answer

Yes, a gene mutation: Hemophilia &quot;A&quot; is a hereditary bleeding disorder where there is a deficiency in clotting factor VIII (factor VIII is needed for blood clotting). It is inherited on the X-chromosome (sex-linked). Men only have 1 &quot;X&quot;, so if their &quot;X&quot; is mutated, they will have the disease. Women have 2 &quot;X&#x27;s&quot;, so they can have 1 mutated &quot;X&quot; and 1 normal &quot;X&quot;, and be a carrier of the disease, with mild or no symptoms.

Question 9

what type of mutation causes thalassemia?

Accepted Answer

Hemoglobin: formation is affected in thalassemia.  Mutation in one or both of  the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia.

Question 10

why do viral mutations pose such a threat to humans?

Accepted Answer

Viral mutation: Our body's immune system may see the mutation as somewhat novel and be unprepared to fight it.

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C kit mutation plasma based

A member asked:

Can i be diagnosed with gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 ugt1a1 gene analysis came normal (no mutations)?

A member asked:

Currently based on calculation i should ovulated cd16 - cd21. i have used opk test kit n show positive on cd 13-16. on 16 i had white egg discharge.

A member asked:

What is lamin a/c mutation and how is it treated?

A member asked:

What is the definition or description of: mutation?

A member asked:

How would mutations have both positive and negative impacts?

A member asked:

How can mutations create new traits?

A member asked:

What type of mutation causes hemophilia?

A member asked:

Could hemophilia occur due to a mutation?

A member asked:

What type of mutation causes thalassemia?

A member asked:

Why do viral mutations pose such a threat to humans?

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