Consider the pedigree below for a recessive autosomal trait caused by allele t. The dominant wild-type allele is represented by T. What is the genotype of individual 4 in generation II?
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Consider the pedigree below for a recessive autosomal trait caused by allele t. The dominant wild-type allele is represented by T. What is the genotype of individual 4 in generation II?
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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?As it turned out, one of the tallest Potsdam Guards had an unquenchable attraction to short women. During his tenure as guard, he had numerous clandestine affairs. In each case, children resulted. Subsequently, some of the childrenwho had no way of knowing that they were relatedmarried and had children of their own. Assume that two pairs of genes determine height. The genotype of the 7-foot-tall Potsdam Guard was A9A9B9B9, and the genotype of all of his 5-foot clandestine lovers was AABB. An A9 or B9 allele in the offspring each adds 6 inches to the base height of 5 feet conferred by the AABB genotype. a. What were the genotypes and phenotypes of all the F1 children? b. Diagram the cross between the F1 offspring, and give all possible genotypes and phenotypes of the F2 progenyA pedigree analysis was performed on the family of a man with schizophrenia. Based on the known concordance statistics, would his MZ twin be at high risk for the disease? Would the twins risk decrease if he were raised in an environment different from that of his schizophrenic brother?
- 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?What is the most likely inheritance pattern shown in image B, below? B A E KEY Homozygous Homozygous Heterozygous Heterozygous Wild Type Male Female Male Female Male Note: Completely red symbol denotes an individual exhibiting the phenotype of interest CI 11 III IV V 1/4 A Autosomal Dominant Autosomal Recessive Sex-linked Dominant Sex-Linked Recessive Mitochondrial 1/2 1/2 1/2 1/2 Wild Type Female 1/4 1/2 B Affected Known carrier Affected female Normal female Affected male Normal maleDetermine the type of inheritance pattern seen in the pedigrees below. Use the choices we had in LA2 as possible patterns. (slashes - died) (lighter symbols = heterozygous) (A-shaped connection =twins) 11 ||| MS1 wt M 25 M 48 M 42 O X-Linked Dominant X-Linked Recessive Autosomal Dominant Autosomal Recessive 2 2 ローダ d'o wt wt M 26 3 M M 32 5 MS2 wt M 30 M* 2 M M ΝΑ 2² 3 3 M wt
- BIU A- == 三E 12 - Match each of the following examples to the appropriate type of non-Mendelian inheritance. 1. A homozygous recessive genotype for the gene that encodes phenylalanine hydroxylase (which breaks down the amino acid phenylalanine) causes lighter skin color, a musty odor, differences in intellectual development, and seizures. 2. In pea plants, alleles of Gene W control flower color, with the dominant allele (W) leading to purple flower.color, and the recessive allele (w) leading to white flower color. Usually, a genotype of WW or Ww leads to purple flowers. However, when Gene C is homozygous recessive, WW or Ww plants always have white flowers. 3. In mallard ducks, feather coloring is controlled by Gene F. A dominant allele (F) leads to green head feathers, while a recessive allele (f) leads to brown head feathers. In male mallards, inheritance of one or more F alleles always leads to the green head feather trait. But female mallards always have brown head feathers,…Cystic fibrosis (CF) is an autosomal recessive trait. A three-generation pedigree is shown below for a family that carries the mutant allele for cystic fibrosis. Note that carriers are not colored in to allow you to figure out their genotypes. Normal allele = F CF mutant allele = f What is the genotype of individual #8?In the following pedigree of an autosomal recessive disorder, what is the probability that IV-1 will be affected? I II III IV 1/2 1/12 O 3/4 2/3 O 1/4 Rr 1 R 2 Rr 2 R 3 RR 3 R 1 5 Rr 4 2
- Refer to the pedigree below which shows inheritance for achondroplasia (dwarfism), a dominantly inherited trait (denoted as D), which are the darkened circles and squares. Dwarfism (darkened shapes) are dominantly inherited, while normal height is recessively inherited (hh). Based on the pedigree, what is the correct genotype for individual #II-6? Dominant Autosomal Pedigree 2 II 2 3 II 1 2 3 6 9 10 Dd DD DD or Dd ddThe following pedigree shows a family in which an inherited condition is apparent. The muscle biopsy from the one of the affected persons shows ragged red fibers and parking lot inclusions on microscopy. What is the most likely mode of inheritance for this condition? Answers A - E A Autosomal Dominant B Autosomal Recessive C Mitochondrial D X-linked Dominant E X-linked Recessive O O TO 0 ☐ QCystic fibrosis (CF) is an autosomal recessive trait. A three-generation pedigree is shown below for a family that carries the mutant allele for cystic fibrosis CF). All affected individuals are colored in, but carriers are not colored in to allow you to figure out their genotypes. Normal allele = F CF mutant allele = f When individuals #7 and #8 had children, what was the probability that one of their children would have CF? HInt: do a Punnett square for this cross. A) 0% B) impossible to tell C) 50% D) 100% E) 25%