Listen Spontaneous Mutations Can result from an error in the egg or sperm of a parent Can result from an error early in development of an embryo Can be passed on to future generations All of the above Listen Two parents have a condition but they have a daughter who does not have the condition. The condition must be Autosomal recessive Sex linked recessive Autosomal Dominant Sex linked dominant

Listen Spontaneous Mutations Can result from an error in the egg or sperm of a parent Can result from an error early in development of an embryo Can be passed on to future generations All of the above Listen Two parents have a condition but they have a daughter who does not have the condition. The condition must be Autosomal recessive Sex linked recessive Autosomal Dominant Sex linked dominant

Name: ListenSpontaneous MutationsCan result from an error in the egg or spe
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Description: ListenSpontaneous MutationsCan result from an error in the egg or sperm of a parentCan result from an error early in development of an embryoCan be passed on to future generationsAll of the aboveListenTwo parents have a condition but they have a dau

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter4: Pedigree Analysis In Human Genetics

Section: Chapter Questions

Problem 18QP: Analysis of Autosomal Recessive and Dominant Traits Describe the phenotype and primary gene or...

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In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor recessive gene. If 2 normal parents had a daughter with the symptoms ofthis disease, and a normal son, what is the probability that he might be acarrier of the recessive gene?Express answer in fraction form.
The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?
Unaffected father Camier mother XY Unaffected Afected Carrier Unaffeded Unaffected daugkter U.S. National Lbrany of Mediche Carrier Affected son daughter son In humans, as well as in many other animals and some plants, the sex of the individual is determined by sex chromosomes. The sex chromosomes are one pair of non-homologous chromosomes: XX represents a female, while XY represents a male. When a gene for a specific trait is attached to the X or Y chromosome, we say it is sex-linked, and when it is attached to the X chromosome, we say it is X-linked. Alleles for these linked traits, such as hemophilia or color blindness, crosses, may be recessive or dominant. Hemophilia is an X-linked, recessive trait. The recessive allele for hemophilia is actually a mutated version of the normal alllele but it can still be passed on through generations. Imagine a female is a carrier for hemophilia; her genotype is Xx She is married to a man who does not have hemophilia. What conclusion is NOT valid…
Analysis of Autosomal Recessive and Dominant Traits Huntington disease is a rare, fatal disease that usually develops in the fourth or fifth decade of life. It is caused by a single autosomal dominant allele. A phenotypically normal man in his twenties who has a 2-year-old son of his own learns that his father has developed Huntington disease. What is the probability that he himself will develop the disease? What is the chance that his young son will eventually develop the disease?
Analysis of Autosomal Recessive and Dominant Traits Describe the phenotype and primary gene or protein defect of the X-linked recessive disease muscular dystrophy.
Analysis of X-Linked Dominant and Recessive Traits Suppose a couple, both phenotypically normal, have two children: one unaffected daughter and one son affected with a genetic disorder. The phenotype ratio is 1:1, making it difficult to determine whether the trait is autosomal or X-linked. With your knowledge of genetics, what are the genotypes of the parents and children in the autosomal case? In the X-linked case?
Clubfoot is a common congenital birth defect. This defect is caused by a number of genes but appears to be phenotypically distributed in a noncontinuous fashion. Geneticists use the threshold model to explain the occurrence of this defect. Explain this model. Explain predisposition to the defect in an individual who has a genotypic liability above the threshold versus an individual who has a liability below the threshold.
Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
Choose the statement that is incorrect. a. A son can inherit a recessive allele on an X chromosome from either parent. b. An individual may inherit three or more of each type of chromosome characteristic or the species, a condition called polyploidy. c. A female child inherits one X chromosome from her mother and one from her father. d. Pedigree analysis can be used to determine a future childs chance of being born with achcondroplasia.
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?