- 01 Introduction Test 1
- 02 Chromosomal basis of heredity Test 2
- 03 Patterns of single-gene inheritance Test 3
- 04 Principle of clinical cytogenetics Test 4
- 05 Chromosomal Disorder Test 5
- 06 Multifactorial Disorders Test 6
- 07 Epigenetics Test 7
- 08 Genetics of Cancer Test 8
- 09 Genetic variation in individuals and population： Mutation and Polymorphism Test 9
- 10 Diagnosis of Genetic Diseases Test 10
- 11 Genetic counseling and risk assessment Test 11
1、 问题:Which of the following statement is right about genetic disease?
A:All familial diseases are genetic diseases.
B:All congenital diseases are genetic diseases.
C:Not all genetic diseases are congenital diseases.
D:None of above is correct.
答案: 【Not all genetic diseases are congenital diseases.】
2、 问题:What is genetic disease?
答案: 【Genetic diseases are the diseases which are due to altered genetic materials (genes or chromosomes).】
1、 问题:Which of the following is acrocentric chromosome?
答案: 【Chromosome 13】
2、 问题:Which of the following is the best phase to observe chromosome?
3、 问题:What is cytogenetics?
答案: 【Cytogenetics refers to both the study of the structure of chromosome material and the study of diseases caused by structural and numerical abnormalities of chromosomes.】
1、 问题:A young woman of northern European descent is the single parent of a child with autosomal recessive cystic fibrosis. She marries her first cousin and becomes pregnant. What is the probability that her child will have cystic fibrosis?
2、 问题:A couple are all blood type A, and have a child with blood type O. what is the possibility of this couple have a child with type A?
3、 问题:What conditions will guarantee that a male offspring will have red-green color blindness?
A:the father is colorblind.
B:the mother is colorblind.
C:the father has the recessive gene.
D:the mother has the recessive gene.
答案: 【the mother is colorblind.】
1、 问题:Which of the following pattern is correct?
A:Inversion: 46, XY, inv(2)(p13→q31)
B:Robertsonian translocation: 45, XX, t(14;21)(p11;q11)
C:Ring chromosome: 46, XX, r(2)(::p22→q32::)
D:Deletion: 46, XX, del(3)(p12;p22)
答案: 【Robertsonian translocation: 45, XX, t(14;21)(p11;q11)】
2、 问题:Please describe the following aberrations in both brief and detailed patterns:Chromosome 3 breaks at p22, and the terminal segment of the chromosome is deleted.
答案: 【Brief pattern: 46, XX(XY), del(3)(p22)
Detailed pattern: 46, XX(XY), del(3)(qter→p22:)】
3、 问题: Please describe the following aberrations in both brief and detailed patterns: Chromosome 8 breaks two times at both q21 and 23, and the intermediary segment is deleted
答案: 【Brief pattern: 46, XX(XY), del(8)(q21q23)
Detailed pattern: 46, XX(XY), del(8)(pter→q21::q23::qter)】
1、 问题:Which is not true for Down syndrome？
A:Down syndrome patient is inviable.
B:Most of Down syndrome is due to 47, XX(XY）,+21.
C:The affected show varying degrees of mental retardation.
D:46,XX(XY),-21,+rob(21;21)(p10;q10) causes Down syndrome.
答案: 【Down syndrome patient is inviable.】
2、 问题:Which karyotype causes Turner syndrome?
D:All of above
答案: 【All of above】
3、 问题:Which is not true for Prader-Willi syndrome (PWS) ?
A:The affected show obesity, Prone to diabetes mellitus.
B:70% of PWS cases due to 15q11-13 Maternal deletion.
C:20-30% due to maternal uniparental disomy.
D:The affected show hypotonia (low muscle tone).
答案: 【70% of PWS cases due to 15q11-13 Maternal deletion.】
1、 问题:About recurrence risk of multifactorial inheritance, which of the following is NOT true?The recurrence risk is
A:lower in second degree relatives than in first degree relatives
B:proportional to the severity of the presentation of disease
C:higher if more than one family member has the disease
D:much higher in second degree relatives than in first degree relatives
答案: 【much higher in second degree relatives than in first degree relatives】
2、 问题:For multifactorial threshold traits, first degree relatives of an affected individual have a higher genetic liability because