問題一覧
1
A person with two or more different cell lines originating from a single zygote is called a:
mosaic
2
A person has 3 barr bodies, what is true?
Has 4 chromosome X
3
The effect of Barr body formation in mammals is that_______
Females are mosaics for heterozygous X-linked genes
4
What does it mean normal karyotype?
Species/individual specific number of chromosome
5
Which of the following is the description of an individual with cri-du-chat syndrome?
46, XY, 5p-
6
Which of the following represents the best description for the movement of a fragment of the short arm of chromosome 6 to the long arm of chromosome 8 and concurrently, moving the fragment that should have been on the long arm of chromosome 8 to the short arm of chromosome 6?
Reciprocal translocation
7
How are Klinefelter and Turner syndromes related?
The result of non-disjunction, Can be detected by karyotyping, Involve abnormal number of X or Y chromosomes, Have 44 autosomes
8
Some mutations have been found that are expressed differently depending on the set of the parent the gene is passed through. This is called _______
imprinting
9
An interstitial deletion of paternal chromosome subregion 15q11-q13 results Prader- Willi syndrome (PWS). The deletion of the same subregion of maternal chromosome results another disease Angelman syndrome. The reason for this is:
Genomic imprinting
10
How many tetrads are found in meiotic prophase in an organism with a diploid number of 12?
6
11
A human genetic defect that is caused by non-disjunction of sex chromosome is
Turner
12
Robertsonian translocations usually involve metacentric chromosomes.
False
13
A 47, XXY may be caused by the non disjunction of
meiosis 2 in either parent
14
The effect of Barr body formation is that
females are mosaics for heterozygous X linked genes
15
What does it mean normal karyotype?
species specific number of chromosome
16
In X inactivation all of X genes are inactivated
false
17
Cri du chat syndrome (),XY,()
46 5p
18
How are Klinefelter and Turner related
the result of non disjunction, can be detected by karyotyping, involve abnormal number of X or Y, have 44autosomes
19
associated with imprinting failure for 15
pws
20
paternal disomy for 15
angelman
21
maternal disomy
pws
22
uniparental dysomy
angelman
23
X inactivation
IncRNA
24
The substitution of one nucleotide for another is known
point
25
Which one of the following statements regarding genetic polymorphism is correct?
Genetic polymorphism are variations in DNA sequence that commonly occur
26
207.Which is the modern definition of the genetic polymorphism?
DNA variation with a known population frequency
27
A point mutation that changes a codon specifying an amino acid into a stop codon is called a:
Nonsense mutation
28
Which mutations would cause a frameshift and this likely be the most detrimental?
insertion of 1 base pair
29
33. Which statement is NOT true about X and Y chromosomes?
Most of X and Y chromosomes located genes are related to gonadal and genital development.
30
Which statement if FALSE for inheritance?
Each chromosome out of the 23 inherited in an unchanged form either from the grandmother or from the grandfather
31
Which cells are haploid in the process of spermatogenesis?
Secondary spermatocytes, spermatids
32
A human female is born with ________ cells in the primordial follicles of her ovaries
primary oocyte
33
Why would you predict that half of the human babies will be males and half will be females?
Because the segregation of the X and Y chromosome during male meiosis
34
Which is true in connection with the spermatogenesis?
Meiosisis arrested at the first meiotic propohase
35
Which is true in connection with the ovogenesis? (oogenesis)
DNA replication happens before meiosis I
36
Which of the following is NOT true about mtDNA?
It has many DNA repair mechanisms
37
A cystic fibrosis mutation screen of an affected child reveals that he carries the Delta F508 mutation on one chromosome and the G551D mutation on the other chromosome. Which of the following terms best describes his situation?
Complex heterozygosity (pete)
38
Myotonic dystrophy may show increasing severity and earlier age of onset in successive generations. This phenomenon is known as:
Anticipation
39
In people with sickle cell disease the red blood cells breakdown, clump, and clog the blood vessels. The broken cells accumulate in the spleen. Among other things this leads to physical weakness, heart failure, pain, brain damage and spleen damage. Affected individuals become paralyzed and can develop rheumatism, pneumonia and other diseases and kidney failure. This is an example of:
Thepleiotropiceffectsofthesicklecellallele
40
Pleiotropy refers to:
The control of more than one trait by a single allele
41
Polydactyly (extra finger) is a dominant trait in humans. A person who has polydactyly has parents who do not have polydactyly, and a maternal grandfather who does have polydactyly. What is the most likely explanation for this?
Incomplete penetrance
42
Duchenne muscular dystrophy and Becker muscular dystrophy have different phenotypes, but they result from mutations in the same gene. This is an example of:
Allelic heterogeneity
43
What is it: The same genetic variations or genotype combinations simultaneously affect more than one phenotype trait?
Pleiotropy
44
Hemophilia A and hemophilia B have nearly identical phentoypes, but they result from a mutation in different genes on the X chromosome. This is an example of:
Locus heterogeneity
45
Which of the following defines the pseudoautosomal region?
Homologous regions of the X and Y chromosomes
46
How can archeologist obtain enough DNA from unearthed human bones?
Usepolymerasechainreaction
47
Huntington’s disease is an example of a genetic disorder caused by
A late acting dominant allele
48
What is complex heterozygocy?
The mutations are on 2 different sites on the 2 of the same gene.
49
Which one of these is caused by repeats of base triplets rather than a whole chromosome?
Fragile-Xsyndrome
50
In a group of 100 women with the genotype for widow’s peak in the hairline, only 87 actually exhibited the trait. This is an example of:
Reduced penetrance
51
different allelic combinations lead to similar phenotypes?
Allelic heterogeneity
52
Marfan syndrome, a dominant single-gene defect, is characterized by lens dislocation, long limbs, spndly fingers, a caved-in chest and a weakened aorta. This is an example of a(n):______ trait.
Pleiotropic
53
Taq polymerase:
A heat stable enzyme, used in PCR
54
What is the function of Anaphase promoting complex?
Ubiquitinligase
55
In vitro DNA synthesis requires the activity of _________
Taq polymerase
56
Huntington disease is a deadly dominant disease. How can this allele be transmitted from one generation to another if one copy is enough to make the carrier die?
Because symptoms appear between 30 and 50 years old and death occurs several years later
57
Which of the following statements regarding mutations causing Huntington Disease is FALSE?
The trinucleotide repeats are located within the 3’ untranslated region of the Huntingtin gene.
58
Which technique would be most suitable for testing the hypothesis: Treating an estrogen-responsive cell line with estrogen gives a five-fold increase in the level of a specific mRNA with a length of 1800 nucleotides
Northern blotting
59
PCR is used to:
Copy DNA sequences
60
Both sickle cell anemia and hemophilia
Are monogenic
61
A grandfather and grandson both have ectrodactyly, but the intervening father has normal hands by X-ray. Which of the following terms would most appropriately apply to the trait in this family
Reduced penetrance
62
All of the following statements regarding genetic mutations are true EXCEPT
Mutations underlying most genetic diseases are known
63
Huntington chorea may show increasing severity and earlier age of onset in successive generations
Anticipation
64
What is the proble, leading to anaphase bridge formation?
failure of proper DNA synthesis
65
What kind of chromosomal aberration can cause CML or ALL?
reciprocal translocation of chromosome 9 and 22
66
Which of the following represents the best description for the movement of a fragment of the short arm of chromosome 6 to the long arm of chromosome 8 and concurrently, moving the fragment that should have been on the long arm of chromosome 8 to the short arm of chromosome 6?
Reciprocal translocation
67
Genes of which of the following are coded on the Y chromosome:
Testis development
68
What is the approximate percentage (%) of human DNA that codes for proteins?
1
69
chromosome number of polar body after meiosis2
23
70
chromosome number of turner syndrome
45
71
chromosome number of healthy person
46
72
chromosome number of Edwards syndrome
47
73
chromosome number of triploid zygote
69
74
Which type of atypical mitosis can lead to polythene chromosomes and polyploid cells?
endomitosis
75
Southern blotting is:
Non-radioactive DNA restriction fragments, separated by electrophoresis and blotted onto a membrane filter, is tested for hybridization with radioactive gene-specific probe of either RNA or DNA.
76
Archaeologists unearthed a human skull with a small dried fragment of the scalp still attached. They extracted a tiny amount of DNA from the scalp tissue. How could they obtain sufficient DNA for an analysis of the ancient human’s genes?
Use polymerase chain reaction
77
A woman carries a Robertsonka translocation with 45, XX rob (21,21). What can be the possible consequences of her pregnancy?
spontaneous anotrion, or child with Down
78
movement of a fragment of the long arm of chromosome 13 centromer region of chromosome 14?
robertonian translocation
79
A point mutation that changes a codon specifying an amino acid into a stop codon is called a..
Nonsense mutation
80
What is the mode of inheritance of color blindness?
X-linked recessive trait
81
Which of the following is the molecular cause of xeroderma pigmentosum?
Mutations in a gene that repairs the damage to DNA caused by ultraviolet light
82
In a healthy two years old boy, what phase the gametogenesis can be found?
spermatogonium
83
Which pairing is correct?
Pachytene – crossing over
84
Not true about human genome
mutation rates are higher during female meiosis
85
Which region highly variable?
STR
86
Which one of these is caused by repeats of base triplets rather than a whole chromosome
Fragile-Xsyndrome