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Chapter 8: Problem 5

Compare partial monosomy with haploinsufficiency.

Short Answer

Expert verified
Answer: The main differences between partial monosomy and haploinsufficiency are the causes and the degree of impact on the phenotype. Partial monosomy results from a structural change in the chromosome that causes the loss of some genetic material, typically leading to more severe phenotypic effects. On the other hand, haploinsufficiency occurs when one functional allele of a gene is insufficient to maintain proper function and regulation, impacting only one specific gene.

Step by step solution

01

Define Partial Monosomy

Partial monosomy is the condition where an individual has a missing portion of a single chromosome, resulting in the loss of some genetic material. This can lead to various health problems and developmental issues, depending on the specific genes affected.
02

Define Haploinsufficiency

Haploinsufficiency is a situation where having one functional copy of a gene is not enough to produce the normal phenotype. In other words, the presence of one functional allele is insufficient to maintain the proper function or regulation, typically resulting in a dominantly inherited disorder.
03

Compare Similarities

Both partial monosomy and haploinsufficiency involve altered function or regulation of genes caused by a reduction of the normal gene dosage. In both cases, the altered dosage can have significant effects on an individual's phenotype, leading to various health issues and developmental disorders.
04

Compare Differences

The main difference between partial monosomy and haploinsufficiency is the cause of the altered gene dosage. Partial monosomy results from a structural change in the chromosome, leading to the loss of some genetic material. On the other hand, haploinsufficiency is caused by the presence of one functional allele being insufficient to maintain proper function and regulation. Additionally, partial monosomy typically leads to more severe effects on the phenotype, as it involves the loss of several contiguous genes, whereas haploinsufficiency impacts only one specific gene.
05

Provide Examples of Partial Monosomy

One example of partial monosomy is Cri-du-Chat Syndrome. This rare genetic disorder is caused by the deletion of a portion of chromosome 5. Symptoms include intellectual disability, a high-pitched cry, and specific facial features. Another example is 1p36 Deletion Syndrome, which is caused by the loss of a portion of chromosome 1. This can lead to moderate to severe intellectual disabilities, slow growth, and various health issues, including heart and kidney problems.
06

Provide Examples of Haploinsufficiency

An example of haploinsufficiency is Marfan Syndrome, an autosomal dominant disorder caused primarily by a mutation in the fibrillin-1 (FBN1) gene. People with Marfan Syndrome often have skeletal and connective tissue abnormalities, as well as cardiovascular issues. Another example is the tumor suppressor gene TP53, which is associated with Li-Fraumeni Syndrome. In this case, one mutant copy of TP53 leads to increased susceptibility to various types of cancer due to insufficient tumor suppression.

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Most popular questions from this chapter

A couple planning their family are aware that through the past three generations on the husband's side a substantial number of stillbirths have occurred and several malformed babies were born who died early in childhood. The wife has studied genetics and urges her husband to visit a genetic counseling clinic, where a complete karyotype-banding analysis is performed. Although the tests show that he has a normal complement of 46 chromosomes, banding analysis reveals that one member of the chromosome 1 pair (in group \(A\) ) contains an inversion covering 70 percent of its length. The homolog of chromosome 1 and all other chromosomes show the normal banding sequence. (a) How would you explain the high incidence of past stillbirths? (b) What can you predict about the probability of abnormal- ity/normality of their future children? (c) Would you advise the woman that she will have to bring each pregnancy to term to determine whether the fetus is normal? If not, what else can you suggest?

Having correctly established the \(\mathrm{F}_{2}\) ratio in Problem 18 , predict the \(\mathrm{F}_{2}\) ratio of a "dihybrid" cross involving two independently assorting characteristics (e.g., \(\mathrm{P}_{1}=W W W W\) AAAA \(\times\) wwwwaaaa).

Define these pairs of terms, and distinguish between them. aneuploidy/euploidy monosomy/trisomy Patau syndrome/Edwards syndrome autopolyploidy/allopolyploidy autotetraploid/amphidiploid paracentric inversion/pericentric inversion

The mutations called bobbed in Drosophila result from variable reductions (deletions) in the number of amplified genes coding for rRNA. Researchers trying to maintain bobbed stocks have often documented their tendency to revert to wild type in successive generations. Propose a mechanism based on meiotic recombination which could account for this reversion phenomenon. Why would wild-type flies become more prevalent in Drosophila cultures?

What advantages and disadvantages do polyploid plants have?
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