Which of the following is a molecular explanation for a recessive trait?单项选择题

A

Haploinsufficiency

B

gain-of-function mutation

C

dominant negative mutation

D

50% of the encoded protein gives the same phenotype as 100%

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Question textFill in the blanks in the paragraph below using the appropriate word from the pull-down list. (8 x 0.75 = 6 marks)A total loss of function mutation is called a(n) Answer 1 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] mutation, whereas a partial loss of function mutation is called a(n) Answer 2 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] mutation. Loss of function mutations are usually Answer 3 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] because 50% of a gene product is often sufficient for wild type function. However, in the case of Answer 4 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline], 50% of the gene product is not enough and therefore the heterozygote shows a phenotype. In cases where the mutated protein is non-functional and interferes with the function of a normal protein in the heterozygote, this is called a dominant Answer 5 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] mutation and is often found in structural proteins which form dimers or multimers. Gain of function mutations are generally inherited in a Answer 6 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] fashion. A de novo mutation occurring in a somatic cell of an individual will only affect that individual if the mutation is Answer 7 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline]. Such a mutation will Answer 8 Question 9[select: , dominant, recessive, heterozygous, homozygous, always, sometimes, rarely, never, hypomorphic, polymorphic, neomorph, constitutive, haploinsufficiency, non-functional, genotype, phenotype, structural, product, inherited, stability, subunit, negative, positive, neutral, null, full, somatic, germline] be passed on to the next generation.

If you changed the red C in the sequence from an C to a T predict what would happen to the protein sequence and determine if the protein would still be active.

You are studying colon cancer cells as a cancer research student. You have discovered that there has been a chromosomal rearrangement resulting in the removal of a chromosomal segment. This is called a(n) [ Select ] deletion duplication inversion translocation .  Furthermore, you have found that the removal of this chromosomal segment has resulted in the loss of a gene, which is ultimately leading to loss of cell cycle control and uncontrolled cell division. This makes you think that the gene must be a(n) [ Select ] proto-oncogene tumor suppressor gene oncogene . Further analysis has revealed that this gene is normally transcribed and translated into a polypeptide that must interact with another polypeptide to make a functional protein. The two polypeptides must be interacting with each other via [ Select ] dehydration reaction hydrogen bonds glycosidic linkage , a type of R group interaction that helps shape [ Select ] primary secondary quaternary structure.

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