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HEXA and HEXB genes, Tay-Sachs disease, 4:98, 4:99, 4:99, 4:100-101 Highly active antiretroviral therapy

(HAART), 2:155 High-performance liquid chromatography (HPLC), 2:165-167 advantages, 2:165 applications, 2:165-167, 2:167,

3:197-198 components, 2:165 denaturing (DHPLC), 2:165-167 procedure, 2:165, 2:166 High-throughput screening (HTS), 2:149-150

combinatorial chemistry role,

1:175, 1:176 procedure, 2:149-150 proteomics role, 3:205-206 uses, 2:150 HIPAA (Health Insurance Portability and Accountability Act), 2:94, 3:191-192 Hiroshima (Japan), radiation-caused mutations, 2:171, 2:173 Hirschprung disease, inbreeding and, 2:191 His- bacteria, 1:19-20 Hispanics

Alzheimer's disease, 2:56 cystic fibrosis, 1:202 diabetes, 1:210 Histidine (His)

genetic code, 2:85, 4:137 his- bacteria, 1:19-20 in transcription factors, 4:115 Histocompatibility, defined, 2:181 Histocompatibility leukocyte antigene (HLA) genes, and diabetes, 1:209-210 Histograms, 4:95 Histological, defined, 4:182 Histone acetyltransferases (HATs),

1:137-138 Histone deacetylases, 1:138, 2:164 Histone proteins acetylation of, 4:111 defined, 2:163, 3:77, 4:111 evolution of, 3:94, 3:96 function, 3:199, 4:111 gene clusters, 1:132 hormonal regulation of,

2:163-164 lacking in bacteria, 1:141, 2:15 methylation of, 3:77 MHC, immune function, 2:181, 2:181, 2:183, 4:139-140, 4:141 movement within nucleus, 3:123

in nucleosome complexes, 1:126,

1:133-134, 4:111, 4:114 octamers, 1:133 phosphorylation of, 4:111 tolerance of mutations, 2:158 Hitachi Corporation, automated sequencers, 1:45 Hitler, Adolf, eugenics and, 2:19-20 HIV/AIDS, 2:150-156

acquired immune deficiency syndrome, 2:151, 2:155 antisense nucleotide tools, 1:30, 1:31

congenital, statistics, 1:75 diagnostic tests, 1:64, 4:6 DNA vaccines, 1:255 drug therapies, 2:150-151, 2:154,

2:155-156, 4:41 entering cells, 2:151-152, 2:152, 2:154

genetic components, 1:213 HIV structure, 2:151-152, 2:152, 4:165

immune-system impairment mechanisms, 2:153, 2:155 life cycle, 2:154 mutations, 2:155, 2:157 provirus dormancy, 2:152 retroviral role, 2:151, 4:34, 4:35,

4:38, 4:40-41, 4:52 reverse transcriptase and, 2:151, 2:152-153, 2:154, 2:155, 4:40-41 statistics, 2:150 Tat and Rev proteins, 2:153 transcription, 2:153, 2:154,

2:155-156 translation (reproduction), 2:153, 2:154

viral integrase, 2:152-153, 2:155 HLA (human leukocyte antigen). See Major histocompatibility complex HNF (hepatocyte nuclear factor)

genes, and diabetes, 1:211 HNPCC (hereditary non polyposis cancer), 1:167, 1:169 Holmes, Justice Oliver Wendell, on compulsory sterilization, 2:18 Holoprosencephaly, 2:130 Homeobox sequence, 1:208 Homeodomains, 1:208 Homeostasis, defined, 2:160 Homeotic genes and proteins evolution of, 2:68 in fruit flies, 1:207-208, 2:45,

transcription factors and, 4:113-114, 4:115 Homocystinuria, symptoms and treatment, 3:40 Homodimers defined, 2:162 transcription role, 2:159 Homogentistic acid, 3:43 Homologous chromosomes (homologues)

defined, 1:45, 2:52, 3:5, 4:121 of degenerate PCR primers,

3:158-159 evolutionary relationships,

2:156-158 of model organisms, 2:122, 3:61 point mutations and, 2:27-28 See also Crossing over (recombination); Meiosis; Mitosis; Nondisjunction Homologous recombination as chromosomal repair mechanism, 2:71 gene targeting, 2:71-72, 2:72,

2:73, 4:125-126 to modify ES cells, 2:4, 2:73 Homologous structures, evolutionary relationships, 2:156-158 Homology, 2:156-158

computer analysis of, 2:157 defined, 2:137

to study mutation mechanisms, 2:157-158 Homoplasmic organelles, 2:197 Homosexuality. See Sexual orientation Homozygosity mapping, of inbred populations, 2:190-191 Homozygous defined, 1:35, 2:5, 3:171, 4:68 fixed alleles, 3:171 in Mendelian genetics, 1:147, 3:33-34 Hood, Leroy, 1:44, 2:172 Hoogsteen base pairs, 1:218, 1:218 Horizontal evolution, 1:27 Hormonal regulation, 2:158-165 AIS, 1:21-26

endocrine disorders, 2:129-130 hormone concentration role,

2:164 role of, 2:158-160 of transcription, 2:159, 2:162, 2:163-164 Hormone receptors function, 2:161

movement within nucleus, 3:123 nuclear hormone receptors, 2:161-164

pleiotropic effects on, 3:154 transcription factors and, 4:113-114, 4:115 Hormone therapy estrogen replacement, 1:90 to treat Turner's syndrome, 1:79 Hormones autocrine, 2:160 concentration, 2:164 defined, 1:110, 3:206, 4:60 distances from source, 2:160 extracellular, 2:161 follicle-stimulating, 4:19, 4:21-22 gene expression role, 2:66-67,

4:113-114 growth, 1:63, 2:129-130 paracrine, 2:160 processing, 3:204 reproductive, and breast cancer,

1:89-91 sex-specific, 4:78-79, 4:82 signal transduction role, 1:110, 2:164

synthesis and degradation, 2:164 Horner's syndrome, eye color changes, 2:33 Howard Hughes Medical Institute, Human Genome Project role, 2:173

Hox genes, 1:208, 3:107 HPLC. See High-performance liquid chromatography HPRT (hypoxanthine phosphoribo-

syltransferase), 3:44 Hprt gene, and somatic mutations, 3:93

HPV (human papillomavirus) and cancer, 1:92, 4:155, 4:169 characteristics, 4:165 vaccines to combat, 4:171 Hsp70 and Hsp60 (heat-shock protein chaperone systems), 1:116, 1:117, 1:118 HSV. See Herpes simplex virus HSV-TK (herpes simplex virus thymidine kinase gene), 2:79 HTERT (human telomerase reverse transcriptase), 4:106 HTLV (human Tlymphotropic virus), 4:34, 4:36, 4:38, 4:169 HTS. See High-throughput screening

HTS (high-throughput screening), proteomics role, 3:205-206 Hu, Nan, 4:84

Hudson River, PCB cleanup, 1:59 Hughes, Austin, 2:69 HUGO (Human Genome Organization), 3:23

Human Cancer Genome Anatomy

Project, 2:175 Human chorionic gonadotropin

(hCG), 3:185, 4:21, 4:24 Human cloning, ethical issues, 1:69,

1:158-160, 1:161, 2:3, 2:6, 3:3 Human disease genes, identification of, 2:167-170

candidate gene approach, 2:170 disease symptoms, 2:168 family studies, 2:169 genomic screening, 2:169-170 genomics industry role,

2:124-125 Human Genome Project contributions, 2:102, 2:118, 2:119, 2:171

mapping studies, 3:11 McKusick's contributions, 3:23 Mendelian inheritance ratios, 3:36

mouse models as tools, 3:62 normal function of gene, 2:170 pedigrees as tools, 3:7, 3:36,

3:138-142 pharmacogenomics research,

3:146-147 polymorphisms as tools, 3:162 population screening, 1:202-203, 2:6-7, 2:99-100, 2:143, 3:175-178 recombinant DNA tools, 4:6 restriction enzyme tools, 4:33-34 SNP tools, 2:118-119, 2:166-167, 3:146-147 transgenic animal tools, 4:124, 4:127

See also Diseases, genetics of; Linkage and recombination (linkage analysis); Metabolic diseases; Mitochondrial diseases; specific diseases and disorders

Human Gene Mapping Workshop, 3:23

Human genetic diversity. See Individual genetic variation Human Genetics Laboratory, 4:80 Human genome alternative splicing, 1:11-12,

3:205, 4:59 archaic, DNA analysis, 3:68-69 chromosomal translocations,

3:96-97 chromosomes, number, 2:113, 2:174, 2:199, 3:64, 3:76, 3:106, 3:108-109, 3:108, 3:182, 4:13 as diploid, 2:27-28, 3:60, 3:97 distinguished from mice, 3:96, 3:97, 4:60

distinguished from other organisms, 2:122 distinguished from primates,

3:63, 3:64-65 DNA methyltransferases, 3:46, 3:49

endonuclease enzymes, 3:114 gene families, 2:29 gene loci, number, 3:107 gene sizes, 2:52 genes, number, 2:115, 2:122, 2:128, 2:174, 3:5, 3:24, 3:106, 3:205, 4:7 genetic microchips, 2:119-120,

2:119 genome size, 2:121 genotype frequencies, 3:171-174 haploid complement, 2:114 imprinted genes, 2:183 loci, number, 2:7 mapping, 3:7-8, 3:15 mitochondria, 2:116 mtDNA, 3:53-54 mutation rates, 3:99, 3:177 naming genes, 3:107-108 noncoding genes, 2:115, 2:174,

3:65, 3:83, 3:99, 4:128 nucleotide pairs, number, 3:155, 4:7

overlapping genes, 3:135-136 in pharmacogenomics studies,

3:144-147 polymorphisms, number, 2:122 repetitive sequences, 4:7-12,

4:8-9, 4:149 retropseudogenes, number, 4:10 reverse transcriptase, 4:41 rRNA, number, 3:123 SNPs, 2:191, 3:162 telomeric ends, 4:104 transposable genetic elements, 2:30, 2:67-68, 2:115, 3:64, 4:9-10 triploids, 3:164-165 See also Alu sequences; Auto-somes; Sex chromosomes Human Genome Diversity Project, 2:175

Human Genome Organization

(HUGO), 3:23 Human Genome Project, 2:171-178 accomplishments, 2:120, 2:121-122, 2:174-175 artificial chromosome tools,

1:145-146 BAC library tools, 1:222 behavior genetics, 1:48 bioinformatics, 1:52, 1:54

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