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Ch. 5 - Chromosome Mapping in Eukaryotes
Chapter 5, Problem 34

Because of the relatively high frequency of meiotic errors that lead to developmental abnormalities in humans, many research efforts have focused on identifying correlations between error frequency and chromosome morphology and behavior. Tease et al. (2002) studied human fetal oocytes of chromosomes 21, 18, and 13 using an immunocytological approach that allowed a direct estimate of the frequency and position of meiotic recombination. Below is a summary of information [modified from Tease et al. (2002)] that compares recombination frequency with the frequency of trisomy for chromosomes 21, 18, and 13. (Note: You may want to read appropriate portions of Chapter 8 for descriptions of these trisomic conditions.) Trisomic Mean Recombination Live-born Frequency Frequency Chromosome 21 1.23 1/700 Chromosome 18 2.36 1/3000–1/8000 Chromosome 13 2.50 1/5000–1/19,000 What conclusions can be drawn from these data in terms of recombination and nondisjunction frequencies? How might recombination frequencies influence trisomic frequencies?

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Understand the relationship between recombination and nondisjunction: Recombination during meiosis is crucial for proper chromosome segregation. Errors in recombination can lead to nondisjunction, resulting in trisomy.
Analyze the data provided: Note the recombination frequencies and the corresponding trisomic frequencies for chromosomes 21, 18, and 13.
Compare recombination frequencies: Chromosome 21 has the lowest recombination frequency (1.23), while chromosomes 18 and 13 have higher recombination frequencies (2.36 and 2.50, respectively).
Compare trisomic frequencies: Chromosome 21 has the highest trisomic frequency (1/700), while chromosomes 18 and 13 have lower trisomic frequencies (1/3000–1/8000 and 1/5000–1/19,000, respectively).
Draw conclusions: Consider how lower recombination frequencies might correlate with higher nondisjunction rates, leading to increased trisomic frequencies, as seen with chromosome 21.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Meiotic Recombination

Meiotic recombination is a process during meiosis where homologous chromosomes exchange genetic material, leading to genetic diversity in gametes. The frequency of recombination can vary between different chromosomes and is influenced by factors such as chromosome structure and the presence of recombination hotspots. Understanding this process is crucial for analyzing how variations in recombination rates may correlate with the occurrence of chromosomal abnormalities, such as trisomy.
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Recombination after Single Strand Breaks

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division, which can occur in meiosis I or II. This error can lead to aneuploidy, where cells have an abnormal number of chromosomes, such as in trisomy conditions. The relationship between nondisjunction and recombination frequency is significant, as lower recombination rates may increase the likelihood of nondisjunction events, resulting in higher trisomy frequencies.
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Trisomy

Trisomy is a genetic condition where an individual has three copies of a particular chromosome instead of the usual two. This can lead to developmental abnormalities and various health issues, depending on which chromosome is affected. The data presented in the question highlights the correlation between recombination frequency and the incidence of trisomy for chromosomes 21, 18, and 13, suggesting that higher recombination rates may be associated with lower frequencies of these chromosomal abnormalities.
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Related Practice
Textbook Question
In Drosophila, a female fly is heterozygous for three mutations, Bar eyes (B), miniature wings (m), and ebony body (e). Note that Bar is a dominant mutation. The fly is crossed to a male with normal eyes, miniature wings, and ebony body. The results of the cross are as follows. 111 miniature 101 Bar, ebony 29 wild type 31 Bar, miniature, ebony 117 Bar 35 ebony 26 Bar, miniature 115 miniature, ebony Interpret the results of this cross. If you conclude that linkage is involved between any of the genes, determine the map distance(s) between them.
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Textbook Question
The gene controlling the Xg blood group alleles (Xg⁺ and Xg⁻) and the gene controlling a newly described form of inherited recessive muscle weakness called episodic muscle weakness (EMWX) (Ryan et al., 1999) are closely linked on the X chromosome in humans at position Xp22.3 (the tip of the short arm). A male with EMWX who is Xg⁻ marries a woman who is Xg⁺ and they have eight daughters and one son, all of whom are normal for muscle function, the male being Xg⁺ and all the daughters being heterozygous at both the EMWX and Xg loci. Following is a table that lists three of the daughters with the phenotypes of their husbands and children. For each of the offspring, indicate whether or not a crossover was required to produce the phenotypes that are given.
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Textbook Question
How would the results vary in cross (a) of Problem 32 if genes A and B were linked with no crossing over between them? How would the results of cross (a) vary if genes A and B were linked and 20 map units (mu) apart?
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Textbook Question
Because of the relatively high frequency of meiotic errors that lead to developmental abnormalities in humans, many research efforts have focused on identifying correlations between error frequency and chromosome morphology and behavior. Tease et al. (2002) studied human fetal oocytes of chromosomes 21, 18, and 13 using an immunocytological approach that allowed a direct estimate of the frequency and position of meiotic recombination. Below is a summary of information [modified from Tease et al. (2002)] that compares recombination frequency with the frequency of trisomy for chromosomes 21, 18, and 13. (Note: You may want to read appropriate portions of Chapter 8 for descriptions of these trisomic conditions.) Trisomic Mean Recombination Live-born Frequency Frequency Chromosome 21 1.23 1/700 Chromosome 18 2.36 1/3000–1/8000 Chromosome 13 2.50 1/5000–1/19,000 Other studies indicate that the number of crossovers per oocyte is somewhat constant, and it has been suggested that positive chromosomal interference acts to spread out a limited number of crossovers among as many chromosomes as possible. Considering information in part (a), speculate on the selective advantage positive chromosomal interference might confer.
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