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Ch. 8 - Chromosome Mutations: Variation in Number and Arrangement
Klug - Concepts of Genetics 12th Edition
Klug12th EditionConcepts of GeneticsISBN: 9780135564776당신이 사용하는 게 아니라요?교과서 변경
8장, 문제 22a

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.
How would you explain the high incidence of past stillbirths?

검증된 단계별 안내
1
Understand that a chromosomal inversion occurs when a segment of a chromosome breaks off, flips around, and reattaches, altering the gene order without changing the total amount of genetic material.
Recognize that the husband carries a large inversion on one chromosome 1 homolog, covering 70% of its length, while the other homolog and all other chromosomes are normal.
Recall that during meiosis, homologous chromosomes pair and undergo crossing over; in the presence of an inversion, this pairing forms an inversion loop to align homologous regions properly.
Note that crossing over within the inversion loop can produce recombinant chromosomes with duplications and deletions, leading to unbalanced gametes.
Conclude that fertilization involving these unbalanced gametes can result in embryos with genetic imbalances, causing stillbirths or severe malformations, explaining the high incidence of these outcomes in the husband's family history.

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이 영상 해법은 위 문제에 도움이 된다고 튜터들이 추천한 것입니다.
영상 길이:
41s

주요 개념

질문에 올바르게 답하기 위해 반드시 이해해야 하는 핵심 개념들은 다음과 같습니다.

Chromosomal Inversions

A chromosomal inversion occurs when a segment of a chromosome breaks off, flips, and reinserts in the reverse orientation. Although the total genetic material remains the same, inversions can disrupt gene function or interfere with chromosome pairing during meiosis, potentially leading to abnormal gametes.
추천 영상:

Meiotic Pairing and Recombination in Inversion Heterozygotes

In individuals heterozygous for an inversion, homologous chromosomes form inversion loops during meiosis to align properly. Crossing over within the inverted segment can produce unbalanced gametes with duplications or deletions, increasing the risk of miscarriages, stillbirths, or congenital abnormalities in offspring.
추천 영상:

Genetic Counseling and Karyotype Analysis

Genetic counseling uses karyotype analysis to detect chromosomal abnormalities like inversions. Even with a normal chromosome count, banding patterns reveal structural changes that can explain recurrent reproductive issues. Counseling helps families understand risks and reproductive options.
추천 영상:
가이드 코스
02:48
Chi Square Analysis
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교과서 질문

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.

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?

449
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교과서 질문

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.

What can you predict about the probability of abnormality/normality of their future children?

430
views
교과서 질문

The outcome of a single crossover between nonsister chromatids in the inversion loop of an inversion heterozygote varies depending on whether the inversion is of the paracentric or pericentric type. What differences are expected?

541
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교과서 질문
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?
483
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교과서 질문

Having correctly established the F₂ ratio in Problem 18, predict the F₂ ratio of a 'dihybrid' cross involving two independently assorting characteristics (e.g., P₁ = WWWWAAAA x wwwwaaaa).

643
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교과서 질문

In a cross in Drosophila, a female heterozygous for the autosomally linked genes a, b, c, d, and e (abcde/ +++++) was testcrossed with a male homozygous for all recessive alleles. Even though the distance between each of the loci was at least 3 map units, only four phenotypes were recovered, yielding the following data:

Why are many expected crossover phenotypes missing? Can any of these loci be mapped from the data given here? If so, determine map distances.

878
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