Review Questions - Chapter 12 “Human Genetics and Chromosomes” (KEY)

1. The first abnormal chromosome tied to cancer was named the _Philadelphia
_______ chromosome.
2. A __karyotype________ is a preparation of metaphase chromosomes based on
their defining features.
3. The units of information about heritable traits are known as __genes________.
4. Diploid (2n) cells have pairs of __homologous (sister)________
chromosomes.
5. ___Alleles_______ are different molecular forms of the same gene that are
possible at a given locus; a __dominant________-type allele is the most
common form of a gene.
6. State the circumstances required for crossing over and describe the results. Genes
must be on the same chromosome and after CO, there will be a new
combination of maternal and paternal mix of genes on the same chromosome
(gametic) Independent assortment refers to the random alignment of each
pair of homologous chromosomes at metaphase I of meiosis.
7. Name and describe the sex chromosomes in human males and females. XX
(female); XY (male)
8. Human X and Y chromosomes fall into the more general category of
__sex________ chromosomes; all other chromosomes in an individual’s cells are
the same in both sexes and are called __autosomes________.
9. Define karyotype; briefly describe its preparation and value. A metaphase
preparation of chromosomal images where the chromosomes are
aligned in groups (Largest to smallest)
10. Explain meiotic segregation of sex chromosomes to gametes and the subsequent
random fertilization that determines sex in many organisms. X and Y
chromosomes are sister chromosomes. In a female, each gamete
can only receive a X; in the male each gamete has a 50: 50 chance
of receiving an Y chromosome. Thus the male determines the
gender of the individual offspring.
11. A newly identified region of the Y chromosome called ___SRY region_______
appears to be the master gene for sex determination. All the genes on a specific
chromosome are called a __linkage________ group. Explain why the term "sex-
linked genes" is less precise than the use of the terms, X-linked and Y-linked
genes. The SRY region is on the Y chromosome (most of the time)
and thus is linked to the Y chromosome not to the X. This is a more
precise term.)
12. In whose laboratory was sex linkage in fruit flies discovered? Approximately
when? Morgan; late 1800’s
13. State the relationship between crossover frequency and the location of genes on a
chromosome. The closer the linkage, the lower the crossover rate.

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14. __Pedigree________ is a chart of the genetic connections between individuals;
be familiar with the standardized symbols used in such charts.
15. A genetic __abnormality________ is a rare, uncommon version of a trait
whereas an inherited genetic _disorder_________ is an inherited condition that
sooner or later will cause mild to severe medical problems.
16. A __syndrome________ is a recognized set of symptoms that characterize a
given disorder.
17. Describe what is meant by a genetic disease. It is an inherited condition
that sooner or later will cause mild to severe medical problems.
18. Carefully characterize patterns of autosomal recessive inheritance, autosomal
dominant inheritance, and X-linked recessive inheritance. See the PPPDescribe
the characteristics of Hutchinson-Gilford progeria syndrome. Early
progressive aging such that the individuals are biologically aged at
the mid-teens. Dominant, random mutation.
19. A(n) __deletion________ is a loss of a chromosome segment; a(n)
_inversion_________ is a gene sequence separated from a chromosome but
then was inserted at the same place, but in reverse; a(n)
__duplication________ is a repeat of several gene sequences on the same
chromosome; a(n) _translocation_________ is the transfer of part of one
chromosome to a nonhomologous chromosome.
20. Cite evidence that tend to support the idea that chromosome structure does
evolve.

Changes in chromosome structure tend to be selected

against rather than conserved over evolutionary time.
However, gene regions for the polypeptide chains of
hemoglobin have duplicated to produce different
hemoglobins with different oxygen transporting
efficiencies.
There evidence that in the great apes, chromosomes have
fused such that humans have 2 fewer chromosomes than
do there closest relatives, such as the chimpanzee.

21. When gametes or cells of an affected individual end up with one extra or one less
than the parental number of chromosomes, it is known as
___aneuploidy_______; relate this concept to monosomy and trisomy.
22. Having three or more complete sets of chromosomes is called
__trisomy________.
23. __nondisjunction________ is the failure of the chromosomes to separate in either
meiosis or mitosis.

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24. Trisomy 21 is known as __Down’s_______ syndrome; Turner syndrome has the
chromosome constitution, __of 45________; XXY chromosome constitution is
_Klinefelter’s_________ syndrome; taller than average males with sometimes
mild mental impairment have the __XYY________ condition.
25. Explain what is meant by double-blind studies. Neither the MD’s nor the
patients know which drug (placebo) is being received by the patient. This is
an attempt to rule out the chance that the MD would influence the patient by
telegraphing certain expectations to the patient and possibly adding the
“placebo effect” to the study.
26. List some benefits of genetic screening and genetic counseling to society.

Principally, an afflicted individual could get immediate medical

attention to manage the medical problem(s) associated with the
genotype. Others may feel that a pregnancy should be terminated if
the fetus has a serious genetic problem.

27. Explain the procedures used in three types of prenatal diagnosis: amniocentesis,
chorionic villi analysis, and fetoscopy; compare the risks. Refer to the text or
PPP lecture.
28. Discuss some of the ethical considerations that might be associated with a
decision of induced abortion .

Answers will likely vary based on a person’s religious and

philosophical beliefs.

29. A procedure known as pre-implantation diagnosis relies on __in vitro________

fertilization.