A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?
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- A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?
- Expression of the SYR gene on the Y chromosome gives rise to the male
phenotype in humans. What do you think the inheritance pattern of SYR alleles is called? - 22q11.2 deletion syndrome, also called DiGeorge syndrome, causes atypical parathyroid glands, a heart defect, and an underdeveloped thymus gland. About 85% of patients have a microdeletion of part of chromosome 22. A girl, her mother, and a maternal aunt have very mild DiGeorge syndrome. They all have a reciprocal translocation of chromosomes 22 and 2.
- How can a microdeletion and a translocation cause the same symptoms?
- Why were the people with the translocation less severely affected than the people with microdeletion?
- What other problems might arise in the family with the translocation?
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- Please answer fast Write two different partial diploid genotypes where Lac Z is produced constitutively but Lac Y is not produced either in the presence or absence of lactose. List both genotypes and explain in a few words how the expression phenotypes of Lac Z and Lac Y are produced by each genotype.Give typed full explanation Two parents who are each known to be carriers of an autosomal recessive alleles have four children. None of the children has the recessive condition. What is the probability that one or more of the children is a carrier of the recessive allele?Fragile X syndrome why is interesting Fragile X syndrome What are the symptoms or characteristics of this disorder or trait? What is the prevalence of the trait or disorder? What are the main genetic factors? s the genetic cause of this disorder or trait known? What gene(s) have been proven to be involved? Or, if not known, what genes are thought to be involved? Is it caused by a single gene? polygenic? Multifactorial? Devote a few paragraphs to this This could be one of the longest parts of the paper, if you choose to focus on this. If multiple genes are thought to be involved, discuss the specific role of at least one of them in depth (if known). Is the gene you’re discussing thought to play a major or a minor role in the phenotype? What chromosome is it on? What protein does it code for, and how might the protein possibly contribute to the phenotype? If no genes have yet been identified, indicate this, and devote at least one paragraph to any current efforts to determine which…
- Explore chromosomal defects among humans in Ensembl at https://www.ensembl.org/index.html?redirect=no(Links to an external site.) Take a screenshot of one of your findings and describe the type of aberration and its associated phenotype. Identify the locus of gene variant(s) responsible for the disorder. Screenshot Name of chromosomal defect Type of aberration and locus of gene variant(s) Phenotype References:Gene Interaction and Epistasis Hair color is due to the presence of melanin. There are two types of melanin produced by melanocytes. One is eumelanin, which is responsible for black (homozygous), brown (heterozygous), and blond (recessive) hair colors. The other is pheomelanin, which is responsible for red hair color. During melanin synthesis, MCR1gene converts pheomelanin to eumelanin. However, a variant of the MCR1 gene (MCR1variant), prevents this conversion. A cross between a blond-haired mother and a red-haired father produced 100% brown-haired children. When they came of age, one child married a double heterozygote, and both were blessed with 7 children; 2 with black hair, 2 with brown hair, 1 with blond hair, and 2 with red hair. Using the 7-step method, determine the genotypes of the P1, the F1, and the F2s. BOX your answers (if handwritten) or HIGHLIGHT your answers (if encoded). STEP 1: ________________________________________________________ STEP 2:…VARIATIONS IN GENE EXPRESSION In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is X-linked. The dominant allele (G) codes for fast enzymes for normal cell functioning while the recessive allele (g) codes for slow enzymes, which are responsible for the reduced enzymatic activity of cells. However, the presence of slow enzymes has minimal effect in the overall functioning of heterozygotes, thus normal. Recessives, however, are more prone to oxidative reactions that speed up the cell damaging process, thus weak (but not lethal). If random inactivation occurs during dosage compensation, what would be the genotypes and phenotypes of the children of a heterozygous mother and a recessive father? Show COMPLETE cross.
- Variations in Gene Expression In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is X-linked. The dominant allele (G) codes for fast enzymes for normal cell functioning while the recessive allele (g) codes for slow enzymes, which are responsible for the reduced enzymatic activity of cells. However, the presence of slow enzymes has minimal effect in the overall functioning of heterozygotes, thus normal. Recessives, however, are more prone to oxidative reactions that speed up the cell damaging process, thus weak (but not lethal). If random inactivation occurs during dosage compensation, what would be the genotypes and phenotypes of the children of a heterozygous mother and a recessive father? with COMPLETE crossIdentify the specific mode of inheritance. 1.) Mae is affected with the disease phenylketonuria (PKU). The PKU gene codes for the production of the enzyme that metabolizes phenylalanine. Nonfunctionality of this gene can lead to intellectual disability, seizures, and other serious medical problems. 2.) Duchenne muscular dystrophy results from the mutation of the dystrophin gene. While both sexes carry the mutation, females rarely exhibit signs of the disease.Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…
- Y-linked Inheritance. Holandric genes are inherited by males only. Assuming that a man with hypertrichosis is married to a woman and they had children 1. what is the probability that his sons inherit the trait? 2. what is the probability that his daughters inherit the trait?Give typing answer with explanation and conclusion What characteristics of the DSX protein enable the female- and male-specific isoforms of DSX to regulate the same genes but with different outcomes in female and male development? [multiple answers possible] A.The two isoforms are different alleles of the same gene B.The two isoforms have different DNA-binding domains C.The two isoforms are lncRNAs involved in dosage compensation D.The two isoforms differ in their activation domain E.The two isoforms share the same activation domain F. The two isoforms share the same DNA-binding domainEXTRANUCLEAR INHERITANCE In drosophila, a recessive mutation (m-) of a maternal effect gene (MEG) results in an abnormal phenotype wherein homozygous (m-m-) females produce eggs that cannot support embryonic development. Homozygous (m-m-) males, however, can still produce viable sperm. Using m+ to denote a normal gene, determine the genotypes and phenotypes of the F1s produced by a cross between a heterozygous female and a recessive male. From the offspring, backcross the recessive female with the paternal strain. What are the genotypes and phenotypes of the F2s? with COMPLETE cross for both cases.