what is the diagnosis of Chronic granulomatous disease (CGD) and explain the genetic mechanism involved.

Q: What is the cause of Wolf-Hirschhorn and make sure to explain specifically why the karyotype of your…

A: Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major…

Q: describe what is CNVCopy number variant?

A: The human genome consists of 6 billion chemical bases or nucleotides of DNA packed into two sets of…

Q: Illustrate and give the normal sequence and the mutated sequence in Leigh's syndrome

A: A disease is a state of unhealthiness of the physical body, mind and social interaction. A disease…

Q: Explain how it is possible for a person with a translocationor an inversion to be phenotypically…

A: Chromosomes are the condensed packaged structure of the genetic material of an organism. The…

Q: what is the phenotype of the attached images?

A: Genes are the functional unit of heredity. It carries information from one generation to another.…

Q: what is dosage compensation.?

A: Sex of an organism in various species depends on the type and number of sex chromosomes. In species…

Q: What is Prenatal genetic diagnosis ?

A: Prenatal diagnosis involves non-invasive and invasive techniques. The non-invasive technique…

Q: • What is the causative gene mutation in these diseases? • What amino acid and/or protein domain is…

A: this is a multipart question and according to our guidelines we are allowed to answer only 3 parts…

Q: Explain the genes responsible for complex diseases such as coronary artery disease ?

A: “Coronary artery disease (CAD)” is a complex disease that is considered the leading cause of death…

Q: Regarding albinism, with adavances in fields such as gene therapy and stem cell research, is there a…

A: Introduction :- Albinism is an inherited condition in which the rate of melanin production is…

Q: Define deletion-insertion polymorphisms (DIPs)

A: Insertion is a mutation in which one or more nucleotide base pairs are added into a DNA sequence.…

Q: What the grandparents' genotypes are? Why doesn’t the father (II-1) have the disease breast cancer?…

A: Genetic inheritance is the process by which genetic information is passed from the parents to the…

Q: What are the possible genotypes of the PTC locus?

A: * genotype means collection of genes that  refers to two alleles of a particular gene and genotype…

Q: Explain an example  of single-nucleotide polymorphism (SNP) associated with disease.

A: Answer- Single nucleotide polymorphism is the DNA sequence variation at the single site.

Q: Why Recessive CF disease alleles either produce no CFTR or produce nonfunctional or less functional…

A: Cystic fibrosis (CF) is a classical example of recessive disease. It is a disease that is inherited.

Q: What is the genetic basis of the symptoms of Down syndrome?

A: Ans: In humans various diseases or disorders are caused by chromosomal aberrations or mutation in…

Q: How can Cri-Du-Chat syndrome be diagnose with karyotyping?

A: Karyotyping is a genome-wide snapshot of an individual's chromosomes. It's a collection of a cells…

Q: Why are maternal effect genes so difficult to identify via mutant analysis?

A: Introduction :- In an offspring , the genes are contributed by both of the parents but the mother…

Q: What is an allelic mutation?

A: Gene is a unit of heredity that is transferred from 1 generation to another, from parents to their…

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: physical appearances of individuals affected by the abnormality structure of deletion, inversion,…

A: The phenotypes of individuals are effected by numerous factors. As much as it depends on factors…

Q: Define the noninvasive prenatal genetic diagnosis (NIPGD) technique ?

A: KEY WORDS :- Prenatal - It is the period before delivery of the baby. When fetus is growing inside…

Q: What is anomic aphasia?

A: The anomia is generally a language disorder - inability to express or communicate. It will slowly…

Q: What is Intron retention type of alternativesplicing ?

A: A portion in mRNA that codes for protein is termed as exon. The non-coding region is termed as…

Q: What cause of the genetic disease

A: (Please note that we are not supposed to provide links to the information.)  Genetic disorders are…

Q: Define common variants

A: A common variant is a part of a hypothesis "Common diseases-common variant" that accounts for the…

Q: describe Deletion-insertion polymorphisms (DIPs)

A: Polymorphism: Many forms of a allele is termed as polymorphism. The polymorphism leads to the…

Q: determining coat color is the agouti gene?

A: The coloration, pattern, and length of the cat fur is governed by numerous genes and is determined…

Q: What term is used to describe the dip at the region marked by 4? What is its purpose?

A:

Q: what are the steps for diagnosing Cri-Du-Chat syndrome using Karyotyping?

A: The analysis of cri du chat disorder is affirmed by an through clinical assessment, Identification…

Q: What causes short stature in Turner syndrome?

A: Answer: Introduction: Turner syndrome (TS) is commonly found chromosomal disorders. It appears…

Q: Compare and contrast the molecular and phenotypic features of Prader-Willi and Angelman syndromes.

A: Prader villi and angle man syndrome are  imprinting disorders. Both are related to  abnormalities in…

Q: What are similarities between Jacob Syndrome and Patau Syndrome?

A: Jacob Syndrome is a chromosomal aberration caused by the non-disjunction of the Y chromosome. They…

Q: Describe the exact DNA mutation that has occured, to create the mutant dystrophin allele.

A: Complex of dystrophin and glycoprotein (DGC). Dystrophin is a rod-shaped protein that binds the…

Q: Hemophilia , Beta Thalassemia , and Sickle Cell Disease what do all of these disorders have in…

A: A mutation is a change in the sequence of the DNA. Mutations can result from the following: DNA…

Q: What is the significance of the Philadelphia chromosome, and how is it related to leukemia?

A: Chromosomes are the structures present in the nucleus that appear thread like and contain genes.…

Q: Over a thousand different alleles at the CFTR locus have been discovered that can cause cystic…

A: Cystic fibrosis (CF) is a genetic illness that makes bodily fluid develop in a patient's lungs.…

Q: What is the Philadelphia chromosome? How is this chromosome related to cancer? Identify how this…

A: A chromosome could be a dna (deoxyribonucleic acid) molecule with some  or all of the genetic…

Q: b. How is the inheritance pattern of Jervell and Lange-Nielsen syndrome similar to that of familial…

A: Long QT syndrome is a heart condition in which the heart's electrical system is abnormal. The heart…

Q: What are the treatments for sickle cell anemia disorder and what are the possible treatments…

A: Sickle cell anemia disorder is a type of genetic or inherited blood disorder that results in the…

Q: Indicate how D-value and z-value differ.

A: Introduction A microbe, or microorganism, is a microscopic organism. It may occur as a single-celled…

Q: The karyotypes shown here depict chromosomal abnormalities. Name the syndromes and if they are male…

A: "Genes" are the fundamental unit of heredity. They store genetic information in the form of DNA,…

Q: What the genetic disease talk about? What cause of the genetic disease?

A: Genetic disease means the disease that is caused by a mutation in the genome and these mutations are…

Q: Are changes that cause high FST found equally across the genome? What areas of the genome would be…

A: The fixation index is a measure of the population difference due to the genetic structure. It is the…

Q: How do I construct these punnets squares?

A: Punnet square The Punnett square was first time designed by Reginald C. Punnett. It is use to…

Q: Compare and contrast the molecular mechanisms leading to FX syndrome and to FSHMD.

A: Introduction :- A gene originally known as FMR1 gene by scientists and responsible for FXS is…