Victor McKusick, “Mendelian Inheritance in Man”, 1966, Table of Contents, PART TWO (II) was the topic of an earlier blog post
Here I present: Victor McKusick, Mendelian Inheritance’ in Man’, Table of Contents. PART THREE (III).
INTRODUCTION.
Assuming you know Hominin (modern & extinct man) and Hominid (modern & extinct man, plus great apes). Today the DNA companies such as: Ancestry, Familytree, 23&Me send you chromosome paints of buccal saliva samples. The nomenclature of these “direct-to-consumer”companies is based on five (5) steps to specify a region of the chromosomes. The “region” steps are listed BELOW. Chromosome #2 regions are listed BENEATH with genes associated with each region.
REGION DESIGNATION STEPS.
1. Genome Group: A, B, C, D, E, F, G.
2. Autosome Number: 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22.
3. Gender Chromosome: X, Y.
4. Chromosome Arm: p (top, short), q (bottom, long).
5. Chromosome Region: 1, 2, 3, 4 (up & down from centromere).
| 3 | ||||||||
| 2 | 2 | 2 | ||||||
| p | 1 | 1 | 1 | 1 | 1 | |||
| q | 1 | 1 | 1 | 1 | 1 | |||
| 2 | 2 | 2 | 2 | 2 | ||||
| 3 | 3 | 3 | 3 | |||||
| 4 | 4 | |||||||
| 1 | 2 | 3 | 4 | 5 | ||||
| A | B | |||||||
| 2 | 2 | 2 | 2 | 2 | ||||
| p | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| q | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| 2 | 2 | 2 | 2 | 2 | 2 | 2 | 2 | |
| 3 | 3 | |||||||
| 6 | 7 | 8 | 9 | 10 | 11 | 12 | X | |
| C | ||||||||
| p | 1 | 1 | 1 | 1 | 1 | 1 | ||
| q | 1 | 1 | 1 | 1 | 1 | 1 | ||
| 2 | 2 | 2 | 2 | 2 | 2 | |||
| 3 | 3 | |||||||
| 13 | 14 | 15 | 16 | 17 | 18 | |||
| D | E | |||||||
| p | 1 | 1 | 1 | 1 | 1 | |||
| q | 1 | 1 | 1 | 1 | 1 | |||
| 2 | ||||||||
| 19 | 20 | 21 | 22 | Y | ||||
| F | G |
REGION 2p2 TRAITS.
Melanoma-associated gene.
Tremor, familial essential.
Thyroid iodide peroxidase deficiency.
Oculodigitoesophagoduodenal syndrome.
Goiter, congenital.
Anaplastic lymphoma kinase (Ki-1).
Hyperthyroidism, congenital.
Pseudovaginal perineoscrotal hypospadias.
Lipoproteinemia, hypobeta, abeta-, hyperbeta-, and apo-ACTH deficiency.
Xanthinuria, type I.
Colorectal cancer, hereditary, nonpolyposis, type 1.
Obesity, adrenal insufficiency, and red hair.
Ovarian cancer.
LCHAD deficiency.
Muir-Torre syndrome.
Trifurcational protein deficiency, type 1.
Human T-cell leukemia virus enhancer factor.
HELLP syndrome, maternal, of pregnancy.
Precocious puberty, male.
Fatty liver, acute, of pregnancy.
Pseudohermaphoditism, male, with Leydig cell hypoplasia.
Deafness, autosomal recessive.
Hypogonadotropic hypogonadism.
Glacoma, primary infantile.
REGION 2p1 TRAITS.
Micropenis.
Spastic paraplegia.
Leydig cell adenoma, with precocious puberty.
Gingival fibromatosis, hereditary.
Sitosterolemia.
Holoprosencephaly.
Cystinuria.
Ovarian dysgenesis.
Doyne honeycomb degeneration of retina.
Carney complexes.
Dyslexia, specific.
Endometrial carcinoma.
Muscular dystrophy.
Zellweger syndrome.
Miyoshi myopathy.
Adenoleukodystrophy, neonatal.
Myopathy, distal, with anterior tibial onset.
Alsrom syndrome.
Orofacial cleft.
Preeclampsia / eclampsia.
Parkinson disease, type 3.
Welander distal myopathy.
Vitamin K-dependent coagulation defect.
Kappa light chain deficiency.
REGION 2q1 TRAITS.
Pancreatitis-associated protein.
Pancreatic stone protein.
Pulmonary alveolar proteinosis, congenital.
Lissencephaly.
Glaucoma, open angle, B (adult-onset).
Renal tubular acidosis with deafness.
Diabetes mellitus, non-insulin-dependent.
BRCA1-associated RING domain (breast cancer).
Ectodermal dysplasia, autosomal dominant and recessive.
Achromatopsia.
Hyperthyroidism, congenital.
Rhabdomyosarcoma, down-related in.
Nephronophthisis.
Diazepam-binding inhibitor.
Colorectal cancer.
Thrombophilia due to protein C deficiency.
Cardiomyopathy, dilated.
Purpura fulminans, neonatal.
Spastic cerebral palsy, symmetric, autosomal recessive.
Liver cancer oncogene.
Epilepsy.
Xeroderma pigmentosum, group B.
Ataxia, episodic.
Trichothiodystropy.
REGION 2q2 TRAITS.
Deafness, autosomal dominant.
Nemaline myopathy, autosomal recessive.
Myasthenic syndrome, slow-channel congenital.
Convulsions, familial febrile.
Rhizomelic chondrodysplasia punctata, type 3.
Progressive intrahepatic cholestasis.
Cardiomyopathy, dilated.
Edstrom myopathy.
Duane retraction syndrome.
Mesomelic dysplasia, Kantaputra type.
Synpolydactyly, type II.
Cardiomyopathy, familial hypertrophic.
Colorectal cancer, hereditary nonpolyposis, type 3.
Bardet-Biedl syndrome.
Arrhymogenic, right ventricular dysplasia.
Aneurysm, familial arterial.
Myasthenia gravis, neonatal transient.
Diabetes mellitus, insulin-dependent.
Cataracts.
Primary pulmonary hypertension (familial primary).
Paroxymal nonkinesiogenic dyskinesia.
Cleft palate, isolated.
Choreoathetosis, familial paroxysmal.
Wrinkly skin syndrome.
REGION 2q3 TRAITS.
Cerebrotendinous xanthomatosis.
Amyotrophic lateral sclerosis, juvenile recessive.
Acyl-Coenzyme A dehydrogenase.
Lactic acidosis due to defect iron-sulfur cluster of complex I.
Carbamoylphosphate synthetase I.
Ichthyosis.
Waardenburg syndrome, types I and III.
Finnish lethal neonatal metabolic syndrome.
Rhabdomyosarcoma, alveolar.
T-cell leukemia or lymphoma.
Craniofacial-deafness-hand syndrome.
Bjornstad syndrome (pili torti and deafness).
Brachydactyly, type A1.
Myopathy, desmin-related, cardioskeletal.
Goodpasture antigen.
Cardiomyopathy, dilated.
Seretonin receptor.
Natural resistance-associated macrophage protein.
Bethlem myopathy.
Hyperoxaluria, primary, type 1.
Programmed cell death.
Alport syndrome, autosomal recessive.
Leigh syndrome, French-Canadian type.
Hematuria, primary, type 1.
Ultraviolet damage, repair of.
Brachydactyly-mental retardation syndrome.
Crigler-Najjar syndrome, type I.
Epidermolysis bullosa.
Here I presented: Victor McKusick, “Mendelian Inheritance in Man”, 1966, Table of Contents, PART THREE (III).
COMMENTS.
Hominid and Hominin were terms I differentiate at the blog post start. The nomenclature of human DNA chromosomes with bands (shown ABOVE) was explained. Chromosome #2 was selected for its traits; because, human chromosome #2 is the result of a “Robertsonian” fusion of a pair of ape (chimpanzee, gorilla, orangutan) chromosomes (shown BELOW).
