HUMAN BIOLOGY

1

sweet taste

receptors

Rh blood type

leptin receptor

HLA/MHC

tumor necrosis

factor

CD4

helper T cell antigen

oncogene KRAS2

(lung cancer, bladder

cancer, breast cancer)

keratins

lysozyme

(phenylketonuria)

2345 6

789101112

13 14 15 16 17 18

19 20 21 22

X

Y

(gluten intolerance)

hemoglobin β chain

(sickle-cell anemia)

(Canavan disease)

p53 tumor antigen

NF1 (neurofibromatosis)

serotonin transporter

BRCA1 (breast,

ovarian cancer)

insulin

parathyroid hormone

tyrosinase

(albinism)

FSH, β chain

growth hormone

IL2RG (SCID-X1)

XIST X chromosome

inactivation control

(red-deficient color blind)

(green-deficient color blind)

(hemophilia A)

sex determining

region Y (SRY)

(Ellis–van Creveld

syndrome)

(Huntington’s disease)

alcohol

dehydrogenase

(susceptibility to

alcoholism)

red hair color

hemoglobin

α chain

DNAse I (lupus)

ribosomal RNA

immunoglobulin

light chains

(achondroplasia)

aldehyde

dehydrogenase

(alcohol intolerance)

estrogen receptor

B cell apoptosis

regulator (B cell

lymphoma)

(no sperm)

male stature

vitamin B 12

receptor

(gluten intolerance)

(anhidrotic ectodermal

dysplasia)

(hemophilia B)

dystrophin

(muscular dystrophy)

(Friedreich’s

ataxia)

(galactosemia)

(cerebral palsy)

rhodopsin

(alkaptonuria)

somatostatin

(sucrose

intolerance)

HIV receptor

oxytocin receptor

antibody

light chain

CD8; cytotoxic

T cell antigen

LH/choriogonadotropin

receptor (micropenis)

glucagon

corticotropin

releasing

hormone

gonadotropin

releasing

hormone

(cleft palate)

lactase

ABO blood group

(fructose

intolerance)

ribosomal RNA

ribosomal RNA

(bipolar disorder,

early onset)

fibrillin 1 (Marfan

syndrome)

(Tay-Sachs

disease)

brown hair color

insulin receptor

BRCA2

(breast cancer)

TCR β subunit

(gastroesophageal

reflux)

cytochrome c

elastin

leptin (obesity)

(blue-deficient

color blind)

CFTR (cystic fibrosis)

TSH β chain

(anorexia nervosa

susceptibility)

LDL receptor

(coronary artery disease)

LH, β chain

HCG, β chain

(Warfarin resistance)

green/blue eye color

ribosomal RNA

oxytocin

TSH receptor

presinilin

(Alzheimer’s)

immunoglobulin

heavy chains

GHRH

(acromegaly)

prion protein

(Creutzfeldt-

Jakob disease)

ribosomal RNA

myoglobin

cri-du-chat syndrome

interleukin- 4

growth hormone

receptor (pituitary

dwarfism)

marijuana receptor

bitter taste

receptor

myelin basic protein

interferon

receptors

Figure A .12 Haploid set of human chromosomes. The banding patterns characteristic of each type of chromosome appear after
staining with a reagent called Giemsa. The locations of some of the 20,065 known genes (as of November 2008) are indicated.
Also shown are locations that, when mutated, cause some of the genetic diseases discussed in the text.

A Plain English Map of the Human Chromosomes

and Some Associated Traits

Figure by Lisa Starr (based on information from Susan Offner)

Appendix VII

Appendix Vii A-15

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