Tay-Sachs is a recessive lethal disease in which there is neurologic.pdf

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Tay-Sachs is a recessive lethal disease in which there is neurological deterioration early in life. This disease is rare in the population overall but is found at relatively high frequency in Ashkenazi Jews from Central Europe. A woman whose maternal uncle had the disease is trying to determine the probability that she and her husband could have an affected child. Her father does not come from a high risk population. Her husband’s sister died of the disease at an early age. a. Draw the pedigree of the individuals described. Include the genotype where possible. b. Determine the probability that the couple’s first child will be affected. Solution Maternal Grandmother: Nt Maternal Grandfather: Nt Uncle: tt Mother: NX Father: NN Woman: NX Husband\'s mother: Nt Husband\'s father: Nt Husband\'s Sister: tt Husband: NX t = tay sachs X = unknown N = Normal gene There\'s a 50% chance the woman is a carrier and a 66.6% chance the husband is a carrier. Going by what we know, there is a 1 in 12 chance the child will have the disease. (24 total outcomes, only two result in the child having tay sachs).

uetator Periodic Table Question 6 of 30 Incorrect Incorrect DA Sapling Learning sponsible syndrome is anX-inked, recessive condition caused by mutation of the HPRT1 muscle movements, The syndrome is characterized byjuvenile-onset gout, in and behavioral disorders. A mother and father have a young daughter who was diagnosed with Lesch-Nyhan syndrome. No one in the with family was ever diagnosed the The maternal grandfather was diagnosed syndrome, but neither one of her parents was diagnosed with condition. Select all the descriptions that could explain how their daughter inherited Lesch-Nyhan syndrome. The daughter could not have Nyhan because her maternal grandparents did not have disease. The girl must have acquired the disease through a random mutation. The daughter inherited two xchromosomes with the of the mothers X mutation. Nondisjunction chromosome chromosomes occurred during meiosis, and the daughter inherited from her father. The father did not contribute a sex chromosome to his daughter due to nondisjunction of the sex chromosomes. The daughter is xo and her only X chromosome came from her mother, who was a O The d from her father, who was a carrier. camies the Lesch-Nyhan mutation and was Her inherited There is a hint available! bottom divider bar. Click on the divider bar again to hide the hint. Previous ® Give Up & View solution Check Answer 0 Next HExi Hint Solution 1) the hint here is that the mother\'s maternal was diagnosed with Lesch-Nyhan syndrome. Since it is an X-chromosome related disease, it is very rare to have females affected by it. If a girl has LNS, she must have inherited two effected X chromosomes from each parent. Also, one third of cases arise from new mutations even when there is no family history of any. So the first two points are the possible reasons for the girls to have LNS..

Modes of inheritance

Ramachandran Thiruvengadam

This document discusses different modes of inheritance for genetic diseases. It covers single gene disorders like sickle cell anemia and chromosomal disorders like Down syndrome. It explains Mendel's laws of inheritance including segregation and independent assortment. The major patterns of inheritance are autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive and mitochondrial. Characteristics of each pattern are provided along with examples. Multifactorial inheritance involving multiple gene loci is also described. The role of genetics and lifestyle in disease development is highlighted.

3 Years Old Girl With Mosaic Down Syndrome

AR Muhamad Na'im

This document discusses a 3-year-old girl with mosaic Down syndrome who presented for a yearly medical checkup. It provides background on the types of Down syndrome, including that mosaicism usually arises from a trisomic zygote with mitotic loss of one chromosome 21. The risks for complications like congenital heart disease and leukemia are discussed. Screening for conditions like thyroid issues and leukemia is recommended due to increased risks for individuals with Down syndrome.

Dan Geschwind, MD, PhD: Advances in Genetics 2016

Semel Admin

Advances in genetics have identified hundreds of genes associated with autism spectrum disorder (ASD) risk. Knowing the genetic causes has implications for treatment, recurrence risk, and prevention. While ASD has extreme genetic heterogeneity, studies in animal models, human cells, and post-mortem tissue aim to identify convergent biological pathways and circuits impacted across various genetic mutations. This research seeks to develop targeted therapies for ASD and demonstrates the potential of precision medicine approaches for neurodevelopmental disorders.

Module 10 human heredity

CRCourseDev

- Karyotypes show the 23 pairs of chromosomes in human cells, with autosomes making up the first 22 pairs and sex chromosomes determining gender as the 23rd pair (XX female, XY male) - Pedigree charts show the genetic history and inheritance of traits in a family over generations using symbols to represent individuals and their genotypes - Traits can be dominant, recessive, or sex-linked (located on the X chromosome); the chance of offspring inheriting traits can be determined using Punnett squares - Down syndrome is identified via karyotype as having an extra copy of chromosome 21, giving 47 total chromosomes rather than the typical 46

Module 10 human heredity

CRCourseDev

Module 10 human heredity

CRCourseDev

#IAmALSP

Sisters' Hope Foundation

The document discusses the author's genetic testing results which showed that they carry the same CSF1R gene variant that caused their brother's rapidly neurodegenerative disorder known as ALSP. While there is no current cure or treatment, the author does not currently have any symptoms even though they are at the age range when symptoms commonly appear. Research is ongoing into potential treatments thanks to advocacy organizations like the Sisters' Hope Foundation.

The document discusses different patterns of inheritance for genetic conditions: - Autosomal dominant requires only one copy of the mutated gene to cause the condition, affecting both sexes equally. Examples given are Progeria and Huntington's disease. - Autosomal recessive requires two copies of the mutated gene to cause the condition, can skip generations, and affects both sexes equally. Examples given are albinism and Tay-Sachs disease. - X-linked recessive mainly affects males and can skip generations as fathers pass the gene to daughters but not sons. Examples given are hemophilia and Duchenne muscular dystrophy. - X-linked dominant affects females more than males, with fathers passing the gene to

Answer part a)According to the gene map of the wild type and the m.pdf

appsmobileshoppe

Answer part a) According to the gene map of the wild type and the mutant gene, it can be seen that the mutant lacks a site for restriction digestion. This shows that in wild type, the restriction enzyme can digest the DNA at any three sites and thus atleast two bands will appear after amplification. On the contrary, the deletion of middle sequence of restriction site will lead to formation of a single band in mutant gene. The smaller band will represnt the mutant and the larger band will represent the normal/wild type allele. Thus, according to this information, it can be deciphered that the mother is a heterozygous in nature and carries a mutant allele for Tay-Sachs disease while the father does not. Thus, the lower band will be a representative of mutant or \"t\" and the upper band will be a representative of normal \"T\" allele. Answer part b) Since the mother is a carrier, there are 50% chances that the mother will transmit the mutant allele to her offspring. Thus, the couple can bear a normal heterozygous carrier female offspring or an affected male offspring. According to the information in the image, the genotype bands of father and offspring match which clearly suggest that the offspring is an unaffected heterozygous carrier female. Answer part c) There are always 50% changes for a male to be affected by the disease. Rest 50% males will be normal both geotypically and phenotypically. Also, all the females will be phenotypically normal but 50% of them would be heterozygous carriers. Genotypes: XtX : XtY : XX : XY :: 1:1:1:1 Phenotypes: Affected : normal : carriers :: 1: 2: 1XYXtXtXXtYXXXXY Solution Answer part a) According to the gene map of the wild type and the mutant gene, it can be seen that the mutant lacks a site for restriction digestion. This shows that in wild type, the restriction enzyme can digest the DNA at any three sites and thus atleast two bands will appear after amplification. On the contrary, the deletion of middle sequence of restriction site will lead to formation of a single band in mutant gene. The smaller band will represnt the mutant and the larger band will represent the normal/wild type allele. Thus, according to this information, it can be deciphered that the mother is a heterozygous in nature and carries a mutant allele for Tay-Sachs disease while the father does not. Thus, the lower band will be a representative of mutant or \"t\" and the upper band will be a representative of normal \"T\" allele. Answer part b) Since the mother is a carrier, there are 50% chances that the mother will transmit the mutant allele to her offspring. Thus, the couple can bear a normal heterozygous carrier female offspring or an affected male offspring. According to the information in the image, the genotype bands of father and offspring match which clearly suggest that the offspring is an unaffected heterozygous carrier female. Answer part c) There are always 50% changes for a male to be affected by the disease. Rest 50% males w.

Part ATay-Sachs disease is an autosomal recessive disorder, so, o.pdf

ankitmobileshop235

Part A: Tay-Sachs disease is an autosomal recessive disorder, so, only a homozygous recessive person will have the disease. 1 in 300 individuals of neither descent will be carrier. A child can have the disease, only if both his/her parents are carriers. Let the genotype of Tay Sachs disease be \'tt\'. So, carrier will be \'Tt\' According to HW equilibrium, 2pq= 1/300 Given data is p = 0.0167 q = 0.983 (This data is totally wrong). Please note that \'q\' is the recessive Tay-Sachs allele and \'p\' is the dominant one. So, the frequency of recessive allele cannot be more than the dominant one. When two carriers cross, 25% chance is there of having the genotype \'tt\'. So, chances of having a child with Tay-Sachs disease = 25% of the total children born or 25% of (1/300 * 1/300) Part B. If one individual is of Ashkenazi descent, then chances of being a carrier is 1/30 If the other parent is normal, then chances of being a carrier is 1/300 When two carriers cross, chances of having homozygous recessive genotype = 25% So, 25% chance of having an affected child is there i.e 25% of (1/30 * 1/300) Part C: Again 25% chance of having an affected child is there. You can also write as: 25% of (1/30 * 1/30) Part D: Again 25% chance of having an affected child is there. You can also write as: 25% of (1/30 * 1/30) Solution Part A: Tay-Sachs disease is an autosomal recessive disorder, so, only a homozygous recessive person will have the disease. 1 in 300 individuals of neither descent will be carrier. A child can have the disease, only if both his/her parents are carriers. Let the genotype of Tay Sachs disease be \'tt\'. So, carrier will be \'Tt\' According to HW equilibrium, 2pq= 1/300 Given data is p = 0.0167 q = 0.983 (This data is totally wrong). Please note that \'q\' is the recessive Tay-Sachs allele and \'p\' is the dominant one. So, the frequency of recessive allele cannot be more than the dominant one. When two carriers cross, 25% chance is there of having the genotype \'tt\'. So, chances of having a child with Tay-Sachs disease = 25% of the total children born or 25% of (1/300 * 1/300) Part B. If one individual is of Ashkenazi descent, then chances of being a carrier is 1/30 If the other parent is normal, then chances of being a carrier is 1/300 When two carriers cross, chances of having homozygous recessive genotype = 25% So, 25% chance of having an affected child is there i.e 25% of (1/30 * 1/300) Part C: Again 25% chance of having an affected child is there. You can also write as: 25% of (1/30 * 1/30) Part D: Again 25% chance of having an affected child is there. You can also write as: 25% of (1/30 * 1/30).

pedigree analysis

Manyam kanaka valli

Pedigree analysis is an important tool for studying human inherited diseases. Pedigrees make relationships within families easier to visualize, especially in large families. They are used to determine the mode of inheritance, such as dominant, recessive, X-linked, etc. The document then discusses why pedigrees are used for humans instead of other methods due to small family sizes and uncontrolled matings in humans. It provides examples of different modes of inheritance and discusses analyzing dominant and recessive pedigrees to determine genotypes.

2 3 4 5 Mode of inheritance- Mode of inheritance-Inheritance of an X-l.pdf

KeithemtPeaked

2 3 4 5 Mode of inheritance? Mode of inheritance? Inheritance of an X -linked recessive trait Red-green color blindness is X-linked in humans. If a male is red-green color blind, and both parents have normal color vision, which of the male's grandparents is most likely to be red-green color blind? maternal grandmother maternal grandfather paternal grandmother paternal grandfather either grandfather is equally likely Inheritance pattern for Tay Sachs disease A couple has a female child with Tay Sachs disease, and three unaffected children. Neither parent nor any of the four biological grandparents of the affected child has had this disease. The most likely genetic explanation is that Tay Sachs disease is inherited as a(n) disease. Predicting inheritance pattern from pedigree analysis A man whe had purple ears came to the attention of a human gencticist. The human geneticist did a pedigree analysis and made the following observations: In this family, purple ears proved to be an inherited trait due to a single genetic locus. The man's mother and one sister also had purple ears, but his father, his brother, and two other sisters had normal ears. The man and his normal-eared wife had seven children, including four boys and three girls. Two girls and two boys had purple ears. The purple-ear trait is most probably: autosomal, dominant autosomal, recessive sex-linked, dominant sex-linked. recessive cannot be determined from this information Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X-linked dominant X -linked recessive Y -linked recessive. Mitochondrial Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X- linked dominant X-linked recessive Y-linked recessive Mitochondrial Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X-linked dominant X- linked recessive Y-linked recessive Mitochondrial A man who had purple ears came to the attention of a haman gencticist, The haman geneticist did a peligree ansalysis and made the following observations: In this family. purple eark proved to be an inberited trait due to a single genetic locis. The man's mother and one sister also bad purple ears, but his father. his brotber. and two oker sisters had notmal ears. The mant and his normal-cared wife had seven children. including four boys and three girls. Two girls and two boys had purple ears. The porple-ear trait is most probably: autosomal, dominant autasional, recessive sor-linked. dominut sex-linked. nesessive cannot be determined from this information Determine the probable mechanism of inheritance:.

Down Syndrome

Ronald Magbitang

This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.

Noonan syndrome is a developmental disorder. Noonan syndrome is a ge.pdf

angelnxcom

Noonan syndrome is a developmental disorder. Noonan syndrome is a genetical disorder. Nuerofibromatosis 1 (NF1), Noonan Syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome(CSC) are autosomal dominant disorders. All these diseases leads to mental disorders. As these are autosomal dominant disorders, one mutated copy of gene is enough to get the disease. One of the parent might be a carrier of the gene, get affected with the disease and pass the gene to the children. Both males and females get affected equally as one gene is enough to get the disease. Due to a sudden mutation in any gene also cause the autosomal dominant disorder. Solution Noonan syndrome is a developmental disorder. Noonan syndrome is a genetical disorder. Nuerofibromatosis 1 (NF1), Noonan Syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome(CSC) are autosomal dominant disorders. All these diseases leads to mental disorders. As these are autosomal dominant disorders, one mutated copy of gene is enough to get the disease. One of the parent might be a carrier of the gene, get affected with the disease and pass the gene to the children. Both males and females get affected equally as one gene is enough to get the disease. Due to a sudden mutation in any gene also cause the autosomal dominant disorder..

Trisomy in chromosomes and Down Syndrome

Singana Bhargavi

Pedigree_analysis.pdf

wofoci5583

This document provides information about pedigree analysis including: - A pedigree is a pictorial representation of a family history used to study inherited diseases and traits. - Common symbols are used to represent individuals and their status in a pedigree. Basic patterns of inheritance include autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant. - Autosomal traits are caused by genes on chromosomes 1-22, while sex-linked traits are caused by genes on the X or Y chromosome. Recessive traits require two copies of the allele while dominant traits only require one. - Examples of different inheritance patterns and diseases are described such as cystic fibrosis being autosomal recessive and

Pedigree

Mohsin Sultani

This document discusses several key concepts for analyzing inheritance patterns from pedigrees: 1. It describes modes of inheritance like dominant, recessive, sex-linked, mitochondrial, and maternal effects. 2. Rules are provided for determining genotypes of individuals in dominant and recessive pedigrees, including outsider rules. 3. Methods are described for calculating probabilities of offspring phenotypes given parental genotypes using Mendelian genetics.

Implications of Tay-Sachs Disease: A Case Study for Public Knowledge

Adam Green

Twinztastic

Matthew Greening

The document discusses different types of twins and provides statistics and information about twins. It notes that identical twins come from a single fertilized egg that splits, while fraternal twins come from two separate eggs or sperm. Identical twins are genetically identical, while fraternal twins are as genetically similar as normal siblings. The document also discusses myths and misconceptions about twins, such as the possibility of telepathy or a shared soul between identical twins.

Heritable Traits in Man, Pedigree Analysis and Pedigree Application

Rica Joy Pontilar

This document discusses several heritable human traits and their patterns of inheritance: - Handedness is inherited as a dominant trait with right-handedness dominant over left-handedness. Some traits like naturally curly hair and widow's peak hairline also follow this pattern. - Allergies have a genetic component and children of parents with allergies have an increased chance of also having allergies. - Colorblindness is sex-linked and inherited through a recessive X-chromosome gene, so it is more common in men. - Pedigree charts are used to analyze inheritance patterns and determine if a trait is dominant, recessive, sex-linked, and the probability of it

Chromosomes & Genes

Jennifer Castillo

Chromosomes carry genes that determine traits like height and eye color. Humans have 22 chromosome pairs and two sex chromosomes that determine biological sex. Abnormalities in chromosomes can occur through changes in number, structure, or arrangement of chromosomes and genes. Examples of genetic disorders caused by recessive genes include sickle cell anemia and Tay-Sachs disease. Fragile X syndrome is a rare inherited disorder caused by a faulty X chromosome that progressively destroys neurons in the brain and spinal cord.

Lorenzo's oil

chaquetaman1

The document discusses genetic inheritance, including sex-linked traits and rare genetic diseases. It focuses on Adrenoleukodystrophy (ALD), an X-linked recessive disease characterized by abnormal accumulation of fatty acids in the adrenal gland and central nervous system. Examples are provided to explain the inheritance patterns and likelihood of passing ALD from a carrier mother to her children.

Balanced Translocation

meducationdotnet

population genetics

Kan Momin

Huntington's disease is an autosomal dominant neurological disorder that results from a genetically progressive degeneration of neurons in certain areas of the brain, specifically the basal ganglia. It affects movement coordination. About 30,000 people in the US have been diagnosed, and 200,000 are at risk of inheriting it. The gene responsible is located on chromosome 4 and causes an excess number of glutamine amino acids due to an abnormal expansion of CAG repeats in the DNA coding for the huntingtin protein. There is a 50% chance of inheriting the mutated gene from an affected parent and passing it on to children. While there is no cure, various drugs can help manage symptoms, and new techniques like in vitro fertilization with

Patterns of inheritance

keerthi samuel

This document discusses various patterns of inheritance including autosomal dominant, autosomal recessive, X-linked dominant, and Y-linked recessive inheritance. It provides examples for each pattern and describes their characteristics such as whether males and females are equally affected, the chance of offspring being affected, and common diseases that follow each pattern of inheritance. The document also briefly discusses non-Mendelian inheritance including mosaicism, imprinting, triplet repeats, and mitochondrial inheritance.

psychosis 8.ppt

SamuelAbebe11

This document discusses psychosis and schizophrenia. It begins with definitions and epidemiology, noting schizophrenia typically begins before age 25 and affects people worldwide. The etiology includes genetic and environmental factors. Historically, it was described by Greek physicians and studied by Kraepelin and Bleuler who coined the term. Neurobiologically, it is hypothesized to involve dopamine imbalance, structural brain abnormalities, and genetic vulnerabilities interacting with environmental stressors. Diagnosis is based on symptoms lasting 6+ months including delusions, hallucinations, and functional impairment. Prognosis is usually chronic but variable. Brief psychotic disorder is also summarized as a brief psychotic condition triggered by stressors.

Autosomal recessive inheritance

Abdoulwahab Mahde

TF In Two Sample T-tests and in ANOVA procedures, we pay attention.pdf

Tay-Sachs is a recessive lethal disease in which there is neurologic.pdf

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Tay-Sachs is a recessive lethal disease in which there is neurologic.pdf