Genetics Block 1 Diseases

ptheodore's version from 2015-04-12 21:17

Block 1 Chromosomes

Question Answer
β-globin gene is composed of how many exons3
Alpha-globin gene is located on what Chromosome16
Olfactory receptor (OR) genes is located on what Chromosome11
β-globin gene is located on what Chromosome11P
BRCA1 gene is composed of how many exons24
β-myosin heavy chain (MYH7) gene contains how many exons40
Duplication of DAX-1 on Xp46-XY Reversed
Best method to detect a single-base mutation or small insert or deletionAllele-Specific Oligonucleotide (ASO) Probes
Deletion of Chr 15q inherited from motherAngelman Syndrome
Genomic imprinting on chromosome 11pBeckwith-Wiedeman
BRCA1 gene mutation leads toBreast & Ovarian Cancer
SOX9 gene mutation on chr. 17qCamptomelic Dysplasia
Duplication/Tetrasomy of Chr. 22qCat-eye syndrome
Duplication/Tetrasomy 17pCharcot-Marie Tooth (CMT)
Mutation CYP21 gene on chr. 6Congenital Adrenal Hyperlasia (Female Pseudohermaphrodite)
Deletion of part of the distal short arm of chromosome 5pCri du Chat Syndrome
Which genes are deleted in the AZFc region that are responsible for azoospermiaDAZ gene
AD microdeletion on 22q11.2DiGeorge Syndrome & Velocardiofacial Syndrome (VCFS)
Enzyme responsible for DNA replicationDNA Polymerase
Trisomy of Chromosome 21Down Syndrome
Robertsonian translocation 14q21qDown Syndrome
Trisomy of Chromosome 18Edwards Syndrome
Mutations in the β-myosin heavy chain (MYH7) gene leads toInherited Hypertrophic Cardiomyopathy (IHC)
47XYY non-disjuntionJacob's syndrome, Meiosis 2 (Father)
Mutation of WT1 gene on Chr. 11pFraiser’s & Deny’s Drash Syndrome
47XXY non-disjuctionKlinefelter Syndrome
Duplication of Chr. 12pPallister-Killian
Trisomy of Chromosome 13Patau Syndrome
2 breaks in the centromere, inversion of p25 & q21Pericentric 3 (Chromosome 3)
Deletion of Chr 15q inherited from fatherPrader Willi
Enzyme responsible for DNA TranscriptionRNA Polymerase 2
Deletion 17pSmith-Magenis Syndrome (SMS)
Deletion on Chromosome 7qWilliam’s Syndrome
Recombinant 8 Syndrome (Hispanic community)p23 & q22 Inversion
A male gene that can get a de novo point mutation that can lead to infertilityUSP9Y
Which chromosome & region is associated with fragile XXq (long arm)
The SRY gene is located onYp
Where is USP9Y locatedYq

Block 1

Question Answer
If pseudoautosomal recombination occurs outside of the Yp and Xp border then you get46XX Male or 46XY Female
If the SRY region on the Yp is deleted, this leads to46XY Female
If the SRY region on the Yp crosses over to Xp, this leads to46 XX Male
Duplication of DAX-1 on Xp (dose dependent), Suppression of SRY, Ovarian development, SRY gene is not mutated or deleted46 XY Reversed
Region on the Yq chromosome that is needed for spermatogenesis and external genitaliaAzoospermia Factor (AZF)
Involves a 3 to 4 Mb deletion on the long arm of chromosome 15Q that when inherited from the mother, the child developsAngelman Syndrome
Patients have an unusual facial appearance, severe mental retardation, short stature, seizures, spasticity, and an ataxic gaitAngelman Syndrome
Mutations in the Ube3A (ubiquitin-protein ligase E3A) geneAngelman syndrome
Puppet-like movements, Inappropriate laughter and happiness, Severely MR, microcephalyAngelman Syndrome
3-5% uniparental disomy (2 normal chromosmose from the father)Angelman Syndrome
Abnormalities involving genes on chromosome 11p that undergo genomic imprinting. Also have severe hypoglycemia, abdominal wall defects, and malignant neoplasms of the kidney (Wilms tumor), adrenal, and liverBeckwith-Wiedemann Syndrome
Large babies, macroglossia, wilm’s tumor (malignant neoplasms of kidney), Abdominal wall defects (omphalocele)Beckwith-Wiedemann Syndrome
Caused by imprinting defects resulting in an excess of paternal or a loss of maternal contribution of genes, or both.Beckwith-Wiedemann
10-20% of cases involve uniparental disomy for an imprinted portion of chromosome 11 (11p15). Region includes the insulin-like growth factor 2 (IGF2), CDKN1C, KCNQOT1 and H19 genes. Affected children are very large at birth with an enlarged tongue (macroglossia)Beckwith-Wiedemann
Mutation in either TATA box or CAT box (CCAAT)β-thallassemia
Mutation in AAUAAA or AATAAA (Poly-A Tail)β-thallassemia
This syndrome is characterized clinically by ocular coloboma, congenital heart defects, craniofacial anomalies and moderate mental retardationCat-eye Syndrome
Autosomal Dominant, SOX9 gene mutation or duplication, lethal skeletal malformation, die at birth or right afterCamptomelic Dysplasia
Mutation SOX9Camptomelic Dysplasia (XY Female)
Duplication SOX9 (XX Female)Camptomelic Dysplasia
Demyelinating neuropathy, Distal leg wasting & atrophy, PMP-22 gene (peripheral myelin protein)Charcot-Marie Tooth (CMT)
Which disorder causes a 46XY and a completely female looking physical appearanceComplete Androgen Insensitivity Syndrome (AIS)
X-linked, undifferentiated androgen receptor, female body contours, absence of axillary hairs, sparse pubic hair, development of breasts, blind vagina, no uterus/uterine tubes, Infertile, un-descended testes in abdomen (mistaken for hernia)Complete Androgen Insensitivity Syndrome (AIS)
Autosomal Recessive, Mutation CYP21 which encodes 21-hydroxylase gene – found in abnormally high androgen levelsCongenital Adrenal Hyperlasia (Female Pseudohermaphrodite)
Virilization of infants due to increased androgens females have male characteristics, or males have increased male characteristics at birthCongenital Adrenal Hyperlasia (Female Pseudohermaphrodite)
46XX female pts, Ambiguous external genitalia, enlarged clitoris, fused labia, masculine deep voice, normal ovarian tissueCongenital Adrenal Hyperlasia (Female Pseudohermaphrodite)
Hypertelorism, Epicanthus, Antimongoloid slant of eyes, Mewing cry are features ofCri du Chat
Autosomal Dominant, WT1 gene mutation, XY male with pseudohermaphroditismDeny's Drash Syndrome
Mesengial renal sclerosis, Wilm’s tumor, Associated with Frasier syndrome, Ambiguous external genitalia Deny's Drash Syndrome
The triad of pseudo-hermaphroditism, mesangial renal sclerosis, and Wilms tumorDenys-Drash Syndrome (DDS)
Mutation in WT1 gene (Wilms tumor suppressor gene)Denys-Drash Syndrome (DDS) & Frasier Syndrome
Characterized by absence or hypoplasia of the thymus and parathyroid glands, leads to immunodeficiency due to T-cell deficiency and hypocalcaemiaDiGeorge Syndrome
Cardio problems (tetralogy of Fallot), Abnormal facies, Thymus missing (or underdeveloped), immunodeficiency, Cleft palate, Hypocalcaemia are features ofDiGeorge Syndrome
Disease that occurs 1 child in 800Down Syndrome
Robertsonian Translocation which can be chromosome 21q with either chromosome 14, or chromosome 22 occurs in what diseaseDown Syndrome
Sandal gap, Clinodactyly, Brushfield spots on iris, protuding tongue and risk of leukemia and dementia are features ofDown Syndrome
GATA 1 gene mutationDown Syndrome
BAPP gene mutationDown Syndrome
Micrognathia(small jaw), Overlapping fingers, Rocker bottom feet can be seen inEdwards Syndrome
Nephropathy, complete gonadal dysgenesis (XY female), risk of gonadal blastoma in early childhood, WT1 gene mutationFrasier Syndrome
When a normal (23X) sperm fertilizes an ovum without a nucleus so the 23X x 2= 46XX. Thus all chromosomes are paternal and leads to an abnormal placenta (grape-like cysts)Complete Hydatidiform Moles
Tall/thin, High LH and FSH, Gynecomastasia, Infertile, Hypogonadism & feminized characteristicsKlinefelter
Deficiency of the steroid 5a-reductase (this enzyme converts testosterone to its active form dihydrotestosterone), normal testicular development, ambiguous genitalia--blind vagina/small penisMale pseudohermaphroditism
46XX only has maternal chromosomes. Benign tumor is totipotential (hair, teeth, etc…). removed by surgical excision along with a portion of the ovaryOvarian Teratomas
Duplication (tetrasomy) of all or part of chromosome 12PPallister-Killian syndrome
Example of mosaicisim or duplication of chromosome 12p, Poor muscle tone, thin upper lip/thick lower lip, short nose, severe mental retardation, coarse facies, live until around 40 Pallister-Killian syndrome
Rocker bottom feet, Microcephaly, Microphthalmia, Polydactyly, Hernia and Cleft lip/Palate are features ofPatau Syndrome
2 sperm (triploid) fertilize 1 egg , therefore yields an extra chromosome which is all paternalPartial Hydatidiform Moles
2 breaks in the centromere, chromosome 3 inversion (Newfoundland). p25 q21, Founder’s effect, if one has it, they all have itPericentric 3 Diseases
Involves a 3 to 4 Mb deletion on the long arm of chromosome 15Q that when inherited from the father, the child developsPrader-Willi Syndrome
Short stature, neonatal hypotonia, small hands and feet, obesity, mild to moderate mental retardation, excessive consumption of food and hypogonadismPrader-Willi Syndrome
30% uniparental disomy (2 normal 15 chromosomes from mother)Prader-Willi Syndrome
Inversion of chromosome 8, p23 q 22. Lethal severe in Hispanic community in USA. Carriers have 6% chance of giving it to their kidsRecombinant 8 Syndrome
Deletion of the RAI1 (retinoic acid induced 1) geneSmith-Magenis Syndrome (SMS)
Coarctation of the aorta, Streaked ovaries, Widely spaced nipples, Webbed neck cystic hygromaTurner's Syndrome
The most common chromosome abnormality with spontaneous fetal abortionsTurner's Syndrome
Are not abnormal phenotypically, may have slight mental deficiency, Above average in stature, Maternal age effect, Additional Barr bodies. Example, 47xxx, 48xxxx, 49xxxxx. More X = more SHOX gene. More X = more mentally retardedTrisomy X
Early mental illness, Palate velum (high arch), Abnormal facial appearance, Very similar to Di GeorgeVelocardiofacial
A deletion of about 26 genes from the long arm of chromosome 7QWilliams Syndrome
Disease with elastin gene deletedWilliams Syndrome
Disease with supravalvular aortic stenosis (SAS), and transient hypercalcaemia Williams Syndrome
It is characterized by a distinctive, "elfin“ facial appearance, along with a low nasal bridge. An unusually cheerful demeanor and ease with strangers ("cocktail party“ type personality). Mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded). Language skills, a love for music, cardiovascular problemsWilliams Syndrome
Hypermethylatin of cytosine on CpG islands. 5-methylcytosine by DNA methyltransferaseX Chromosome Inactivation (aka Lyonization)
Random, Produces Barr Bodies, Histone variant (Macro H2A)X Chromosome Inactivation (aka Lyonization)

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