for PCOS (polycystic ovarian syndrome)  the GENE involved is (CYP19, CYP11a, CYP21, CYP17, ) what Effects of this altered gene product on the affected individual.

Q: Individuals with neurofibromatosis may have a range of phenotypes, from pigment spots on the skin to…

A: Genetics is a study of genes, heredity, and genetic variation in an organism. Living organisms…

Q: The following scenario can be seen on Ch 29 Clinical case study on Heredity (27-year-old with normal…

A: Blood is an important fluid tissue in the body that transports oxygen and nutrients to all other…

Q: I figured out that TJ and his brother have chronic granulomatous disease with defective NADPH…

A: Introduction :- Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the…

Q: How might the following individuals respond to or feel about these definitions? 1)A woman who ended…

A: Pregnancy is the state of carrying a developing embryo or fetus within the female uterus. It…

Q: is in vitro fertilization a humen disease?

A: In vitro Fertilization (IVF) is a type of Assisted reproductive technology (ART). This implies…

Q: Females with a disease exactly mimicking X-linked agammaglobulinemia (XLA) have been found. Explain…

A: Genetic diseases, like genetic traits, are transferred from one generation to another. Often genetic…

Q: Hemophilia A is transmitted by an X-linked recessive gene.With an affected father, what is the…

A: Answer: Introduction: In X-linked recessive disorders, an affected father has a mutation in a gene…

Q: List the gene(s) responsible for producing a phenotypic male.

A: Gene is the central physical, and functional unit of heredity is a chromosome. Gene consists of the…

Q: Mrs. Dee (40 years old) and her husband have an amniocentesis for advanced maternal age. They…

A: The amniocentesis is performed for the genetical analysis of the fetus. It helps in the early…

Q: Haploinsufficiency means the reduced dosage of a normal gene product is not enough for a normal…

A: Genetics is the study of the process by which genes are transmitted from the parents to the…

Q: Please explain Androgen Insensitivity Syndrome (ALS). What is the phenotype of these individuals?…

A: The common etiology of aberrant sexual development, androgen insensitivity syndrome, results in a…

Q: A single gene disorder that produces several symptoms is________.

A: Single gene disorders are those which are caused by mutation or abnormality in one gene and can be…

Q: a) Consider the following pedigree. The solid symbols represent affected individuals. Which modes of…

A: a) 1. X linked recessive -  YES Males are affected more than females  The affected father do not…

Q: "The cell cycle is the ticking clock that sets the tempo of developmental processes, with…

A: The alternate growth and division phase of cells is known as the cell cycle. The cell cycle is an…

Q: Discuss why X-linked disorders are more common thanY-linked disorders.

A: Inheritance or heredity is passing-on one trait from the parents to the progeny by either asexual or…

Q: Complete the sentence: The end result of a gene going through the central dogma of biology in any…

A: Molecular biology is a branch of biology where scientist deals with the structure and function of…

Q: What is Down's syndrome? Give its symptoms and cause. Why is it that the chances of having a child…

A: Human genetic disorders are caused by the absence, excess, or abnormal arrangement of one or more…

Q: Q7. Haemophiliacs possess a non-functional form of the gene responsible for the production of blood…

A: Answer :- Dominant allele = H Recessive allele = h Supercript on X are xH and xh xH =Dominant  xh=…

Q: CG islands are thought to have arisen during evolution because they were associated with portions of…

A: A short DNA segment known as a "CG island" has a higher frequency of the sequence "CG" (cytosine…

Q: Sickle cell disease— what is the background of this disorder: include the name of the disorder, any…

A: Sickle cell disease is a genetic condition characterized by abnormal hemoglobin in red blood cells.

Q: The human male never passes on the gene for haemophilia to his son. Why is it so?

A: Haemophilia is an inherited genetic disorder, which impairs the ability of the body to stop bleeding…

Q: Mutations of the CFTR gene causes ( Cerebral Plasy or Cystic Fibrosis or Craniofacial timbrosis or…

A: Mutations of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene primarily cause…

Q: What category of genetic disorders does albinism disord

A: Answer  Albinism is a single gene defect and it is a type genetical disorder.

Q: ivision into 2 identical cells?

A: Cell division is a very important process that is required for the growth and development of an…

Q: What is Rotor Syndrome Clinical Signs and Symptoms and Causes (Inherited or not)

A: Rotor syndrome is characterized by increased levels of bilirubin in the blood (hyperbilirubinemia),…

Q: If the given statement is true or false, explain. Over 300 genetic defects can be detected now by…

A: A karyotype is defined as an organized profile of a persons chromosome and we know that a chromosome…

Q: karyotyping

A: Karyotype: It is defined as an individual's complete set of chromosomes. Example of the karyotype…

Q: dentify the sex and any genetic conditions by analyzing the karyotype of this individual.   1.…

A:

Q: There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last…

A: In blood typing, antigens on the surfaces of red blood cells (RBCs) are known as agglutinogens.…

Q: Define retroversion

A: The female reproductive system includes the following organs: The ovaries The uterine (fallopian)…

Q: What is the meaning of term haploinsufficiency?

A: The gene is the basic physical and functional unit of heredity. Genes are made up of…

Q: “carrier

A: X-linked inheritance means that the gene causing the trait or the disorder is located on the X…

Q: harcot-Marie-Tooth disease (CMT)causes motor and sensory europathies of the peripheral nervous…

A: Mitofusin protein which is encoded by  MFN and play a very important role in regulations of…

Q: Part A What is the probability that the first son of a woman whose brother has Lesch-Nyhan syndrome…

A: Lesch Nyhan syndrome is X linked recessive disorder. Normal = XX, XXn, XY Affected = XnXn, XnY

Q: Why is the one hour bundle in sepsis protocol called the one hour bundle?

A: Sepsis is a life-threatening condition that is manifested by numerous signs, symptoms, hemodynamic,…

Q: A 43-year-old (gravida 2, para 2) pregnant woman requests chorionic villus sampling (CVS) and a…

A: The correct answer is b. Klinefelter syndrome is a diagnosis for a boy with mild to moderate…

Q: (1) What is the karyotype for men who have an extra Y chromosome? Discuss all the ways you can test…

A: INTRODUCTION A chromosomal disorder results in a change in the number of chromosomes in the body.…

Q: the people with the translocation less severely affected than the people with the microdeletion? c.…

A: Translocation suggests that an amendment in location. It typically refers to genetic science, once a…

Q: mutation in the TCOF1 gene causes up to 93% of Treacher Collins syndrome cases. This gene, which is…

A: Treacher Collins syndrome is caused due to either a mutation on the TCOF1 gene present on chromosome…

Q: 12. A. B. C. D. Hemophilia is an x-linked disease in which the blood does not clot normally; it is…

A: Introduction :  Haemophilia is an inherited genetic disorder that impairs the body's ability to…

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.