247:
145:
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31:
136:, also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of historic linkage disequilibrium to link phenotypes (observable characteristics) to genotypes (the genetic constitution of organisms), uncovering genetic associations.
405:
451:
Ezkurdia, Iakes; Juan, David; Rodriguez, Jose Manuel; Frankish, Adam; Diekhans, Mark; Harrow, Jennifer; Vazquez, Jesus; Valencia, Alfonso; Tress, Michael L. (2014-11-15).
546:
542:
361:
may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range from sub-band 4 of region 1 to sub-band 1 of region 2.
81:
is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of
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The numbers that follow the letter represent the position on the arm: region 2, band 2, sub-band 1. The bands are visible under a
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577:
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223:). They appear differently upon staining (for example, euchromatin appears white and heterochromatin appears black on
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385:
246:
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603:
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183:
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453:"Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes"
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is the process of determining the specific locus or loci responsible for producing a particular
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with respect to that locus, while those that have different alleles at a given locus are called
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472:
211:
Thus the entire locus of the example above would be read as "three P two two point one". The
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The position is on the chromosome's short arm (a common apocryphal explanation is that the
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indicates the long arm (chosen as next letter in alphabet after p; it is also said that
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121:
109:
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A range of loci is specified in a similar way. For example, the locus of gene
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228:
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70:
43:
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347:. Each of the bands are numbered, beginning with 1 for the band nearest the
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148:
125:
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38:
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chromosome pairs, both the female (XX) and male (XY) versions of the two
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171:. The chromosomal locus of a typical gene, for example, might be written
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cells whose chromosomes have the same allele at a given locus are called
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97:
86:
30:
215:
are areas of the chromosome either rich in actively-transcribed DNA (
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143:
96:, and an allele may also be said to reside at a particular locus.
29:
358:
351:. Sub-bands and sub-sub-bands are visible at higher resolution.
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424:
Wood, E.J. (1995). "The encyclopedia of molecular biology".
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refers to the terminus of the long arm of chromosome 2.
406:
International System for Human
Cytogenetic Nomenclature
89:
set of 23 chromosomes is estimated at 19,000–20,000.
112:. The ordered list of loci known for a particular
254:with annotated bands and sub-bands. It shows 22
155:The shorter arm of a chromosome is termed the
543:National Center for Biotechnology Information
92:Genes may possess multiple variants known as
8:
27:Location of a gene or region on a chromosome
484:
278:
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201:2 (read as "two, two", not "twenty-two")
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364:The ends of a chromosome are labeled
69:) is a specific, fixed position on a
7:
568:. Belmont, California: Brooks/Cole.
583:Chromosome Banding and Nomenclature
62:
519:from the original on 26 April 2015
25:
549:from the original on 9 May 2023
564:Michael, R. Cummings. (2011).
163:, while the longer arm is the
34:Parts of a typical chromosome:
1:
325:, meaning "tail" in French).
227:). They are counted from the
509:"NCI Dictionary of Genetics"
438:10.1016/0307-4412(95)90659-2
242:Example of cytogenetic bands
620:
270:
513:National Cancer Institute
386:Chromosomal translocation
457:Human Molecular Genetics
539:"NCBI Genetics Review"
295:The chromosome number
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243:
152:
50:
426:Biochemical Education
271:Further information:
249:
241:
147:
33:
578:Overview at ornl.gov
391:Cytogenetic notation
267:mitochondrial genome
83:protein-coding genes
219:) or packaged DNA (
149:Cytogenetic banding
134:Association mapping
73:where a particular
469:10.1093/hmg/ddu309
277:
269:(at bottom left).
244:
153:
51:
463:(22): 5866–5878.
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265:, as well as the
213:cytogenetic bands
47:(3) Short (p) arm
16:(Redirected from
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345:suitably stained
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130:biological trait
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49:(4) Long (q) arm
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263:sex chromosomes
231:out toward the
225:Giemsa staining
221:heterochromatin
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23:
22:
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572:External links
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566:Human Heredity
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85:in a complete
79:genetic marker
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551:. Retrieved
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521:. Retrieved
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313:in French);
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285:Explanation
210:
207:= sub-band 1
204:
197:= region 2,
194:
188:
184:chromosome 3
179:
172:
168:
164:
160:
156:
154:
151:nomenclature
140:Nomenclature
122:Gene mapping
116:is called a
110:heterozygous
91:
66:
58:
52:
604:Chromosomes
523:13 December
432:(2): 1165.
401:Null allele
321:stands for
309:stands for
217:euchromatin
593:Categories
585:from NCBI.
412:References
349:centromere
341:chromosome
337:microscope
256:homologous
229:centromere
106:homozygous
71:chromosome
44:Centromere
18:Gene locus
477:1460-2083
396:Karyotype
372:, and so
339:when the
282:Component
273:Karyotype
259:autosomal
252:karyotype
233:telomeres
175:, where:
126:phenotype
102:polyploid
39:Chromatid
599:Genetics
553:10 March
547:Archived
517:Archived
495:24939910
380:See also
118:gene map
55:genetics
486:4204768
374:"2qter"
191:= p-arm
98:Diploid
94:alleles
87:haploid
493:
483:
475:
370:"qter"
366:"pter"
250:Human
173:3p22.1
114:genome
323:queue
311:petit
169:q-arm
165:q arm
161:p-arm
157:p arm
59:locus
555:2021
525:2014
491:PMID
473:ISSN
368:and
359:OCA1
331:22.1
199:band
100:and
75:gene
67:loci
57:, a
42:(2)
37:(1)
481:PMC
465:doi
434:doi
343:is
167:or
159:or
128:or
77:or
63:pl.
53:In
595::
545:.
541:.
515:.
511:.
489:.
479:.
471:.
461:23
459:.
455:.
430:23
428:.
235:.
195:22
182:=
132:.
120:.
65::
557:.
527:.
497:.
467::
440:.
436::
319:q
315:q
307:p
301:p
291:3
205:1
189:p
180:3
61:(
20:)
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