题目
题目

BMI5102 BMI5102 Final Assessment Section - MCQs & SAQs

单项选择题

Which of the following is a STRUCTURAL genomic variation?

选项
A.A 10-base-pair deletion in the HBB gene associated with β-thalassemia
B.Short CAG tandem repeat in HTT causing Huntington’s disease.
C.A single-nucleotide polymorphism (SNP) in the TP53 linked to cancer risk.
D.A 1-base-pair insertion in the CFTR gene that is implicated in cystic fibrosis.
E.Trisomy 21 — an extra copy of chromosome 21 in Down syndrome.
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标准答案
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思路分析
To start, let's identify what counts as a structural genomic variation. Structural variations are large-scale changes in the genome that rearrange the structure of chromosomes, such as extra copies, deletions, duplications, inversions, or translocations that affect significant spans of DNA. Option 1: 'A 10-base-pair deletion in the HBB gene associated with β-thalassemia' is a small indel (deletion of 10 bases) within a single gen......Login to view full explanation

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类似问题

Name a disease discussed in class that has a primary form due to aneuploidy, and a familial form often caused by translocation. Please, write only the name of the disease with no additional words or punctuation.

Question at position 18 Match the syndrome to the cause.Prompt 1cri du chatAnswer for prompt 1 cri du chat[input]Prompt 2Triple X syndromeAnswer for prompt 2 Triple X syndrome[input]Prompt 3Down syndromeAnswer for prompt 3 Down syndrome[input]Prompt 4Turner syndromeAnswer for prompt 4 Turner syndrome[input]Prompt 5Klinefelter syndromeAnswer for prompt 5 Klinefelter syndrome[input]Possible answerstrisomy 21deletion on chromosome 5X0XXXXXY

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