Chromosome involved in Myotonic Dystrophy is
(A) Chromosome 19[?]Myotonic Dystrophy:oGenetics: Myotonic Dystrophy is caused by a triple nucleotide (triplet) expansion (CTG) in the non-coding region of the myotonin gene at chromosome 19q13.3.o3 Genetic loci:-DM1: 98% of families 1 Myotonin protein kinase (DMPK); chromosome 19q 13.3; Dominant-DM 2: 1 Zinc finger protein 9; Chromosome 3q21; Dominant-DM3: 1 Chromosome 15q21-q24; Dominant.-The condition is characterized by extreme variability, anticipation & differential expansion in the maternal & paternal germline.-4-37 repeats Normal->50 repeats affected[?]Inheritance Pattern:oTypical pattern is a heterozygous affected a parent with a homozygous unaffected parent.oEvery child has 1 chance in 2 of having the diseaseoBoth sexes are affected equally.[?]Myotonic Dystrophy Type 1 (DMI):oCommonest form of adult muscular dystrophy (incidence 1:6000)oAge at onset late teensoInheritance autosomal dominant with anticipation[?]Myotonic Dystrophy (MD) is a trinucleotide repeat disease with multi-systemic involvement: muscle (myotonia & weakness), nerve, CNS (MR), heart (conduction problems), eyes (cataract), Hypersomnolence, Apathy, Cognitive impairments, Endocrine dysfunction etc.,oMyotonia refers to the slow/impaired relaxation of the muscles after voluntary contraction or electrical stimulation.GENETIC DISEASES & ASSOCIATED CHROMOSOMES*. Chromosome 1: Eliptocytosis, Rh Erythroblastosis, Porphyria cutanea tarda*. Chromosome 2: Protein C deficiency*. Chromosome 3: Protein S deficiency, Orotic aciduria*. Chromosome 4: Huntignton's disease*. Chromosome 5: Gardneris syndrome, Familial polyposis coli*. Chromosome 6: Haemochromatosis, Congenital adrenal hyperplasia (21-hydroxylase deficiency)*. Chromosome 7: Cystic fibrosis, Ehlers-Danlos syndrome (one form), Osteogenesis imperfecta (one form)*. Chromosome 8: Nil*. Chromosome 9: Galactosemia, Nail-patella syndrome*. Chromosome 10: MEN type 2*. Chromosome 11: Syndrome of Wilm's tumor, aniridia, gonadoblas- toma, retardation, Beta-thalassemia, Sickle cell anemia, Acute intermittent porphyria*. Chromosome 12: Phenylketonuria, von Willebrand's disease.*. Chromosome 13: Retinoblastoma, Wilson's disease*. Chromosome 14: Nucleoside phosphorylase deficiency, Alpha 1-antitrypsin deficiency*. Chromosome 15: Prader-Willi syndrome, Tay-Sachs disease*. Chromosome 16: Alpha-Thalaseemia, Gout, LCAT deficiency*. Chromosome 17: Growth hormone deficiency (type 1A), von Recklinghausen neurofibromatosis*. Chromosome 18: Nil*. Chromosome 19: Familial hypercholesterolemia, Familial type 3 hyperlipoproteinemia, Myotonic dystrophy; Complement C3 deficiency*. Chromosome 20: Adenosine deaminase deficiency*. Chromosome 21: Alzheimer's disease, Homocystinuria*. Chromosome 22: Metachromatic leukodystrophy, Hurler syndrome (MPS-I), Scheie's syndrome (MPS - V)
Chromosome 19
Chromosome 20
Chromosome 21
Chromosome 22
Genetics