Chromosome location of diseases Flashcards
Autosomal Dominant
HNPP Osteogenesis Imperfecta Charcot-Marie-Tooth Type 1A Huntington’s Disease Myotonic Dystrophy 1 Achondroplasia Neurofibromatosis Marfan Syndrome Polycystic Kidney Disease
Autosomal Recessive
PKU ATD Tay-Sachs Disease Sandhoff Disease AB-Variant of Tay Sachs Cystic Fibrosis Hereditary Hemochromatosis Congenital Adrenal Hyperplasia 5-alpha reductase deficiency Leydig cell hypoplasia Smith-Lemli-Opitz Syndrome Pompe Disease Sickle Cell
X-linked Dominant
Fragile X Syndrome
Rett Syndrome
X-linked Recessive
Duchenne Muscular Dystrophy Becker Muscular Dystrophy Hemophilia A androgen insensitivity syndrome (testicular feminization) Fabry Disease Lesch-Nyhan Syndrome
Mitochondrial
Kearns-Sayre Syndrome
MELAS
MERRF
Leber Hereditary Optic Neuropathy
Chromosomal Abnormalities
Turner Syndrome Klinefelter XYY Syndrome (Jacob's) Trisomy 13 Trisomy 18
Autosomal Contiguous Gene Syndromes
Cri-du-Chat
Prader-Willi
Angelman
DiGeorge WAGR
Chromosome 9 and 22 Translocation
Chronic Myelogenous Leukemia (CML)
BCR and ABL genes combined
Chromsome 15 and 17 translocation
Acute Promyeloid Leukemia
PML/RARA genes combined
Chromosome 11
WAGR Syndrome (Deletion 11P13) Wilms Tumor, Aniridia (eye color-lack), Gonadblastoma, and Retardation
Chromosome 22
DiGeorge Syndrome (Deletion 22Q11)
Chromosome 15
Angelman Syndrome (Deletion Maternal 15Q11-q133) Prader-Willi Syndrome (Deletion Paternal 15Q11-Q13)
Marfan Syndrome –Mutation in FBN1 mutations (fibrillin)
Tay Sach’s Disease–>defect in alpha subunit of HEXA
Chromosome 5
Cri Du Chat Del(5p15.2)
Chromosome 18
Trisomy 18 (Edward’ s Syndrome)
Chromosome 13
Trisomy 13 (Patau’s Syndrome)
Retinoblastoma–> RB1 Gene (critical for cellular growth)
Chromosome 21
Down’ s Syndrome (Trisomy 21)
Sex Chromosome Disorder (47XYY)
Jacob’s syndrome
XXY Sex chromsome Disorder
Klinefelter Syndrome
Chromosome 17
Neurofibromatosis Type 1 (Codes neurofibroma protein)
Charcot- Marie-Tooth Type 1A (Gain of Function: duplication of of PMP22 gene, 17p11.2)
HNPP (Hereditary Neuropathy with Liability to Pressure Palsies)Deletion of PMP22
Osteogenesis imperfecta (type I) nonsense frameshift in COL1A1
Osteogenesis Imperfect Types II, II, IV ovel Property Mutation: the COL1A2 protein has new property due to new/different folding)
Chromosome 4
Achondroplasia Gly380Arg mutation in FGFR3 Gene (fibroblast)
Huntington Disease –> HTT gene with CAG repeats
Chromosome 7
Cystic Fibrosis (CFTR gene; CFTR protein needed to regulate components of sweat, digestive juices, and mucus)
Chromosome 14
ATD (alpha1- Antitrypsin Deficiency)–Defective alpha1-AT protein (normally protease of elastin)SERPINA1 gene
Z-muation =85% affected
S-mutation= 40% affected
M mutation–> roughly normal
45,X
Turner’s syndrome
47, XXX
Tripple X syndrome
46 XY Underdeveloped Male
5-Alpha Reductase Deficiency
46 XY sex reversal
Denys-Drash & Frasier Syndrome
Chromosome 9 and 16
Tuberous Sclerosis—>TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.
chromosome 19
Myotonic Dystrophy Type 1 (DMPK gene with CTG repeats)
Diseases on the X Chromosome
Hypophosphatemic Rickets (PHEX gene mutation)
Fragile X Syndrome (FMR1 mutation)
Rett Syndrome (MECP2 mutation, the methylation protein
Lesch-Nyhan Syndrome (HPRT1 mutation)
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DMD gene)
Fabry Disease
Chromosome 12
Phenylketonuria/PKU disease (PAH gene)
Hypodiploidy (less than 46 chromosomes)
Acute Lymphomatic Leukemia
ALL
