Y-linked 이마 In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. ◆ OTI ■ Autosomal Recessive Autosomal Dominant <> 음 어어어어 55 ◆
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Genetic Variation
Genetic variation refers to the variation in the genome sequences between individual organisms of a species. Individual differences or population differences can both be referred to as genetic variations. It is primarily caused by mutation, but other factors such as genetic drift and sexual reproduction also play a major role.
Quantitative Genetics
Quantitative genetics is the part of genetics that deals with the continuous trait, where the expression of various genes influences the phenotypes. Thus genes are expressed together to produce a trait with continuous variability. This is unlike the classical traits or qualitative traits, where each trait is controlled by the expression of a single or very few genes to produce a discontinuous variation.
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- 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 is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?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. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?Pedigree attached shows an autosomal recessive genetic disease. G is the normal allele and g is the disease-causing allele. Individual 1’s father is heterozygous (*) and his mother is homozygous dominant. Other individuals in the pedigree may be carriers, but are not marked. The question mark (?) indicates that you do not yet know anything about this individual’s phenotype with regard to the disease. part a) What is the probability that individuals 1 and 2 will have a child (5) who is a boy with the disease (the child is unborn and the sex is not yet known)? a)1/8 b)1/4 c)0 d)1/16 part b) What is the probability that the daughter (6) that individual 3 and 4 just had will have the disease? a)1/8 b)1/6 c)1/4 d)1/12
- Consider this pedigree showing an autosomal dominant rare disorder. What is the degree of penetrance? Show your work. na оп 16 19 fa 16 R 9X70 T 꿈 ㅁ ㅁ 이어어어어어어 In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. Y-linked Autosomal Recessive Autosomal Dominant X-linked Recessive X-linked Dominant ()zto.mheducation.com/ext/map/index.html?_con%=con&external_browser=0&launchUrl=https%253A%252F%252Flms.mheducation.com%252Fmghmiddleware? er 10 Assignment Saved Classify the following conditions based on whether they are describing autosomal dominance, autosomal recessive, or both. Autosomal Dominant Affected children can have unaffected pped parents Book Print Heterozygotes are affected erences Autosomal Recessive Heterozygotes have a normal phenotype Both males and females are affected with equal frequency Both Affected children have at least one affected parent 080 acer -> %24 % 2. 6.
- autosomal recessive allele (not sex-linked). Omplete the following monohybrid crosses for different types neritance pattefh autosomal dominant, sex linked recessive, and dominant inheritance. Inheritance of autosomal recessive traits Female parent phenolype: Example: Albinism Albinism (lack of pigment in hair, eyes and skin) is inherited as an Male parent phenatype: Using the codes: PP Pp (normal) (albino) la) Enter the parent phenotypes and complete the Punnett square for a cross between two carrier genotypes. A Give the ratios for the phenotypes from this cross. Pp (carrier) eggs sperm Phenotype ratios: Inheritance of autosomal dominant traits Example: Woolly hair Woolly hair is inherited as an autosomal dominant allele. Each affected individual will have at least one affected parent. Using the codes: WW (woolly hair) Female parent phenotype: Male parent phenotype: Ww (woolly hair, heterozygous) W w (normal hair) (a) Enter the parent phenotypes and complete the Punnett square for a…the Mode of Inheritance (MOI) exercises. Focus on determining the values in the colored cells. Your solutions should read as prose, not simply computations. I have provided values for two MOIs discussed in the lecture, Autosomal Dominant MOI, and X-linked Recessive where the father is affected and the mother is homozygous unaffected. Sometimes, there is confusion regarding defining the disease allele and wild-type allele for a specific mode of inheritance. In this worksheet, you'll note that the D allele is the disease allele for the Autosomal Dominant mode of inheritance. However, it is also the disease allele for the Sex-Linked Recessive mode of inheritance, where the father is affected. The point is, any letter or symbol can represent a disease allele or wild-type allele as long as you define its meaning. For example, I may use r to be the disease allele in an Autosomal Recessive mode of inheritance, and R to be the wild-type allele, or vice versa, as long as I write something like:…Genetic Inheritance Patterms Retinitis pigmnentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Question below - short answer approach Imagine you are a genetics counselor, and Dirk, Erik's brother, comes in to see you. Based on his parents, what are Dirk's possible genotypes for RP? What advice would you give Dirk about the chances of Dirk's children having retinitis pigmentosa if his wife is not a carrier? How would your advice change if his wife fully has the disease? Describe all the possibilities,…
- Alberta is phenotypically normal, but her brother (Rodrigo) has albinism, which is caused by an autosomal recessive mutation. The probability that Alberta is a carrier (i.e., heterozygous for albinism) is [express your answer as a fraction]2/7 - <. Hair texture is an incompletely dominant trait in humans. The three phenotypes are curly, wavy and straight. Straight only occurs when both parents have straight hair. Curly hair also tends to follow this pattern. Only two wavy haired parents produce all three phenotypes. Please explain this observation using punnett squares. Curly x Curly straight x straight Wavy x wavyIn the human pedigree shown below, black filled symbols indicate individuals suffering from a rare genetic disease, whereas empty symbols represent people who do not have the disease. Based on the pedigree, what is the most likely mode of inheritance of this rare genetic disease? O Y-linked OX-linked dominant Autosomal recessive O Autosomal dominant OX-linked recessive