296:
414:: "Type A" (produced by II homozygous and Ii heterozygous genotypes), "Type B" (produced by II homozygous and Ii heterozygous genotypes), "Type AB" produced by II heterozygous genotype, and "Type O" produced by ii homozygous genotype. (It is now known that each of the A, B, and O alleles is actually a class of multiple alleles with different DNA sequences that produce proteins with identical properties: more than 70 alleles are known at the ABO locus. Hence an individual with "Type A" blood may be an AO heterozygote, an AA homozygote, or an AA heterozygote with two different "A" alleles.)
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243:" for the mutant allele. It is now appreciated that most or all gene loci are highly polymorphic, with multiple alleles, whose frequencies vary from population to population, and that a great deal of genetic variation is hidden in the form of alleles that do not produce obvious phenotypic differences. Wild type alleles are often denoted by a superscript plus sign (
370:, a person with Type A blood displays A-antigens and may have a genotype II or Ii. A person with Type B blood displays B-antigens and may have the genotype II or Ii. A person with Type AB blood displays both A- and B-antigens and has the genotype II and a person with Type O blood, displaying neither antigen, has the genotype ii.
235:" alleles that lead to recessive, rare, and frequently deleterious phenotypes. It was formerly thought that most individuals were homozygous for the "wild type" allele at most gene loci, and that any alternative "mutant" allele was found in homozygous form in a small minority of "affected" individuals, often as
864:
The term "idiomorph", from Greek 'morphos' (form) and 'idio' (singular, unique), was introduced in 1990 in place of "allele" to denote sequences at the same locus in different strains that have no sequence similarity and probably do not share a common phylogenetic relationship. It is used mainly in
205:
most resembles. Where the heterozygote is indistinguishable from one of the homozygotes, the allele expressed is the one that leads to the "dominant" phenotype, and the other allele is said to be "recessive". The degree and pattern of dominance varies among loci. This type of interaction was first
1250:
Ogasawara K, Bannai M, Saitou N, Yabe R, Nakata K, Takenaka M, Fujisawa K, Uchikawa M, Ishikawa Y, Juji T, Tokunaga K (June 1996). "Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes".
1307:
708:
767:
225:" allele is sometimes used to describe an allele that is thought to contribute to the typical phenotypic character as seen in "wild" populations of organisms, such as fruit flies (
553:
is the fraction homozygous for the alternative allele. If the first allele is dominant to the second then the fraction of the population that will show the dominant phenotype is
528:
1623:
Waterland, RA; Dolinoy, DC; Lin, JR; Smith, CA; Shi, X; Tahiliani, KG (September 2006). "Maternal methyl supplements increase offspring DNA methylation at Axin Fused".
608:
856:, has been discovered in mice and in humans which is characterized by stochastic (probabilistic) establishment of epigenetic state that can be mitotically inherited.
466:
801:. Other disorders are also due to recessive alleles, but because the gene locus is located on the X chromosome, so that males have only one copy (that is, they are
231:). Such a "wild type" allele was historically regarded as leading to a dominant (overpowering – always expressed), common, and normal phenotype, in contrast to "
853:
378:
of organisms typically includes multiple alleles at each locus among various individuals. Allelic variation at a locus is measurable as the number of alleles (
1980:
1328:
Bateson, W. and
Saunders, E. R. (1902) "The facts of heredity in the light of Mendel’s discovery." Reports to the Evolution Committee of the Royal Society,
1369:"ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy"
1295:
713:
In the case of multiple alleles at a diploid locus, the number of possible genotypes (G) with a number of alleles (a) is given by the expression:
332:. The interaction of multiple genes—and the variation in these genes ("alleles") between individuals—help to determine a person's eye color
1545:
Daxinger, Lucia; Whitelaw, Emma (31 January 2012). "Understanding transgenerational epigenetic inheritance via the gametes in mammals".
2005:
1482:
1588:
Rakyan, Vardhman K; Blewitt, Marnie E; Druker, Riki; Preis, Jost I; Whitelaw, Emma (July 2002). "Metastable epialleles in mammals".
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is a gene variant that lacks the gene's normal function because it either is not expressed, or the expressed protein is inactive.
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The frequency of alleles in a diploid population can be used to predict the frequencies of the corresponding genotypes (see
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are caused when an individual inherits two recessive alleles for a single-gene trait. Recessive genetic disorders include
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168:, meaning "mutual", "reciprocal", or "each other", which itself is related to the Greek adjective ἄλλος,
116:
Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the
2171:
1834:
140:
The word "allele" is a short form of "allelomorph" ("other form", a word coined by
British geneticists
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in humans, classical genetics recognizes three alleles, I, I, and i, which determine compatibility of
1990:
1975:
1303:
1995:
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817:
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105:. For a given locus, if the two chromosomes contain the same allele, they, and the organism, are
17:
1472:
1787:
1367:
Monga, Isha; Qureshi, Abid; Thakur, Nishant; Gupta, Amit Kumar; Kumar, Manoj (September 2017).
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Smigielski, Elizabeth M.; Sirotkin, Karl; Ward, Minghong; Sherry, Stephen T. (1 January 2000).
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product it codes for. However, sometimes different alleles can result in different observable
2122:
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1668:"Isolation of Neurospora crassa a mating type mutants by repeat induced point (RIP) mutation"
1474:
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In many cases, genotypic interactions between the two alleles at a locus can be described as
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is used to distinguish these heritable marks from traditional alleles, which are defined by
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2021:
1839:
1473:
Victor A. McKusick; Cassandra L. Kniffin; Paul J. Converse; Ada Hamosh (10 November 2009).
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210:. However, many traits defy this simple categorization and the phenotypes are modelled by
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with respect to that allele. If the alleles are different, they, and the organism, are
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Metzenberg, Robert L.; Glass, N. Louise (1990). "Mating type and mating strategies in
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can be inherited at specific genomic regions in certain species, a process termed
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is the frequency of the alternative allele, which necessarily sum to unity. Then,
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59:(SNP), but they can also have insertions and deletions of up to several thousand
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Elston, Robert; Satagopan, Jaya; Sun, Shuying (2012). "Genetic
Terminology".
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Most alleles observed result in little or no change in the function of the
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is the fraction of the population homozygous for the first allele, 2
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382:) present, or the proportion of heterozygotes in the population. A
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Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (October 2003).
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410:(II, Ii, II, Ii, II, and ii) which produce one of four possible
132:
for the ABO gene is some combination of just these six alleles.
1870:
1466:
880:
232:
1346:(4th ed.). Jones & Bartlett Publishers. p. 600.
1211:"The nature of diversity and diversification at the ABO locus"
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1021:
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820:, occur when an individual inherits only one dominant allele.
1154:. Methods in Molecular Biology. Vol. 850. pp. 1–9.
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1296:"Genes and genetics: the language of scientific discovery"
201:, according to which of the two homozygous phenotypes the
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plants were the result of a single gene with two alleles.
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772:
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83:
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82:'s discovery that the white and purple flower colors in
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1095:"dbSNP: a database of single nucleotide polymorphisms"
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Alleles that lead to dominant or recessive phenotypes
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148:) in the 1900s, which was used in the early days of
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832:are typically studied in terms of genetic alleles,
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703:{\displaystyle p^{2}+q^{2}+r^{2}+2pq+2pr+2qr=1.\,}
702:
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522:
460:
2158:
1544:
55:Alleles can differ at a single position through
1716:
1082:. Sunderland MA (USA): Sinauer Associates, Inc.
239:, and more frequently in heterozygous form in "
124:, which has six common alleles (variants). In
1788:
1360:
1342:Hartl, Daniel L.; Elizabeth W. Jones (2005).
1447:
1506:"Sequence variation at the human ABO locus"
1795:
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1344:Essential genetics: A genomics perspective
344:and the frequency-dependence of the light
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1384:
1226:
1185:
1126:
699:
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432:). For a simple model, with two alleles;
406:. Any individual has one of six possible
27:One of alternative forms of the same gene
1665:
842:transgenerational epigenetic inheritance
361:
2128:List of genetics research organizations
962:
417:
389:For example, at the gene locus for the
14:
2159:
1503:
1485:from the original on 24 September 2008
773:Allelic dominance in genetic disorders
762:{\displaystyle G={\frac {a(a+1)}{2}}.}
549:is the fraction of heterozygotes, and
1776:
1768:ALFRED: The ALlele FREquency Database
1452:(7 ed.). Macmillan. p. 60.
1293:
1077:
852:. A specific class of epiallele, the
1310:from the original on 29 January 2018
1064:; modern formation from Greek ἄλλος
316:is an inherited trait influenced by
1479:Online Mendelian Inheritance in Man
537:is the frequency of one allele and
523:{\displaystyle p^{2}+2pq+q^{2}=1\,}
258:
24:
40:, is a variant of the sequence of
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1429:from the original on 28 June 2021
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1481:. National Library of Medicine.
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152:to describe variant forms of a
113:with respect to those alleles.
78:. A notable example of this is
57:single nucleotide polymorphisms
1666:Glass, N. L.; Lee, L. (1992).
1475:"ABO Glycosyltransferase; ABO"
1450:Genetics A Conceptual Approach
1322:
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1080:Molecular and Genome Evolution
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956:Single-nucleotide polymorphism
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128:, nearly every living human's
13:
1:
1602:10.1016/S0168-9525(02)02709-9
823:
336:. Eye color is influenced by
44:at a particular location, or
2087:Missing heritability problem
1802:
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135:
7:
1160:10.1007/978-1-61779-555-8_1
887:Evolutionary biology portal
872:
10:
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1685:10.1093/genetics/132.1.125
1228:10.1182/blood-2003-03-0955
1152:Statistical Human Genetics
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2014:
1965:
1909:
1848:
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1523:10.1017/S0003480001008995
1304:Oxford English Dictionary
816:Other disorders, such as
807:red–green color blindness
603:{\displaystyle p+q+r=1\,}
1510:Annals of Human Genetics
865:the genetic research of
430:Hardy–Weinberg principle
1547:Nature Reviews Genetics
1504:Yip SP (January 2002).
461:{\displaystyle p+q=1\,}
228:Drosophila melanogaster
97:at some point in their
91:multicellular organisms
1735:10.1002/bies.950120202
1099:Nucleic Acids Research
763:
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371:
368:ABO blood group system
206:formally-described by
160:. It derives from the
156:detected as different
146:Edith Rebecca Saunders
2123:List of genetic codes
1448:B. A. Pierce (2020).
1386:10.1534/g3.117.044024
931:Mendelian inheritance
911:Genealogical DNA test
854:metastable epialleles
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705:
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525:
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216:polygenic inheritance
120:is controlled by the
99:biological life cycle
2022:Behavioural genetics
1294:Craft, Jude (2013).
1111:10.1093/nar/28.1.352
963:References and notes
818:Huntington's disease
720:
618:
575:
568:With three alleles:
475:
439:
418:Genotype frequencies
189:Dominance (genetics)
179:), meaning "other".
101:; that is, they are
74:, such as different
2102:Population genomics
2092:Molecular evolution
2052:Genetic engineering
850:nucleotide sequence
126:population genetics
2167:Classical genetics
2062:Genetic monitoring
1590:Trends in Genetics
1300:Genes and genetics
1265:10.1007/BF02346189
916:Haploinsufficiency
811:fragile X syndrome
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404:blood transfusions
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352:medium within the
318:more than one gene
118:ABO blood grouping
2172:Genetic genealogy
2154:
2153:
2077:He Jiankui affair
2067:Genetic genealogy
2057:Genetic diversity
1986:the British Isles
1891:Genetic variation
1637:10.1002/dvg.20230
1459:978-1-319-21680-1
1353:978-0-7637-3527-2
1169:978-1-61779-554-1
1078:Graur, D (2016).
799:Tay–Sachs disease
779:genetic disorders
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93:have two sets of
72:phenotypic traits
16:(Redirected from
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2107:Reverse genetics
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259:Multiple alleles
237:genetic diseases
164:prefix ἀλληλο-,
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2090:
2088:
2085:
2083:
2080:
2078:
2075:
2073:
2070:
2068:
2065:
2063:
2060:
2058:
2055:
2053:
2050:
2048:
2045:
2043:
2040:
2038:
2035:
2033:
2030:
2028:
2025:
2023:
2020:
2019:
2017:
2013:
2007:
2004:
2002:
1999:
1997:
1994:
1992:
1989:
1987:
1984:
1982:
1979:
1977:
1974:
1973:
1971:
1968:
1964:
1958:
1955:
1953:
1950:
1948:
1945:
1943:
1940:
1938:
1935:
1933:
1930:
1928:
1925:
1923:
1920:
1918:
1915:
1914:
1912:
1908:
1902:
1899:
1897:
1894:
1892:
1889:
1887:
1884:
1882:
1879:
1877:
1874:
1872:
1869:
1867:
1864:
1862:
1859:
1857:
1854:
1853:
1851:
1847:
1841:
1838:
1836:
1833:
1831:
1828:
1826:
1823:
1821:
1818:
1816:
1813:
1812:
1809:
1805:
1798:
1793:
1791:
1786:
1784:
1779:
1778:
1775:
1769:
1766:
1765:
1752:
1748:
1744:
1740:
1736:
1732:
1728:
1724:
1720:
1713:
1705:
1701:
1696:
1691:
1686:
1681:
1677:
1673:
1669:
1662:
1654:
1650:
1646:
1642:
1638:
1634:
1630:
1626:
1619:
1611:
1607:
1603:
1599:
1595:
1591:
1584:
1576:
1572:
1568:
1564:
1560:
1556:
1553:(3): 153–62.
1552:
1548:
1541:
1533:
1529:
1524:
1519:
1515:
1511:
1507:
1500:
1484:
1480:
1476:
1469:
1461:
1455:
1451:
1444:
1428:
1424:
1420:
1414:
1406:
1402:
1397:
1392:
1387:
1382:
1378:
1374:
1370:
1363:
1355:
1349:
1345:
1338:
1331:
1325:
1309:
1305:
1301:
1297:
1290:
1282:
1278:
1274:
1270:
1266:
1262:
1259:(6): 777–83.
1258:
1254:
1246:
1238:
1234:
1229:
1224:
1220:
1216:
1212:
1205:
1197:
1193:
1188:
1183:
1179:
1175:
1171:
1165:
1161:
1157:
1153:
1146:
1138:
1134:
1129:
1124:
1120:
1116:
1112:
1108:
1104:
1100:
1096:
1089:
1081:
1074:
1067:
1061:
1037:
1029:
1003:
979:
972:
968:
957:
954:
952:
949:
947:
944:
942:
939:
937:
934:
932:
929:
927:
924:
922:
919:
917:
914:
912:
909:
907:
904:
902:
899:
897:
894:
893:
888:
882:
877:
870:
868:
857:
855:
851:
847:
843:
839:
835:
831:
821:
819:
814:
812:
808:
804:
800:
796:
792:
788:
784:
780:
756:
751:
744:
741:
738:
732:
726:
723:
716:
715:
714:
696:
693:
690:
687:
684:
681:
678:
675:
672:
669:
666:
663:
660:
657:
652:
648:
644:
639:
635:
631:
626:
622:
614:
613:
596:
593:
590:
587:
584:
581:
578:
571:
570:
569:
566:
564:
560:
556:
552:
548:
544:
540:
536:
516:
513:
508:
504:
500:
497:
494:
491:
488:
483:
479:
471:
470:
454:
451:
448:
445:
442:
435:
434:
433:
431:
425:
415:
413:
409:
405:
401:
398:
395:
392:
387:
385:
381:
377:
369:
364:
355:
351:
347:
343:
339:
335:
331:
330:
325:
324:
319:
315:
306:
297:
288:
279:
270:
256:
254:
250:
246:
242:
238:
234:
230:
229:
224:
219:
217:
213:
209:
208:Gregor Mendel
204:
200:
196:
190:
180:
178:
175:
171:
167:
163:
159:
155:
151:
147:
143:
133:
131:
127:
123:
119:
114:
112:
108:
104:
100:
96:
92:
87:
85:
81:
80:Gregor Mendel
77:
73:
69:
64:
62:
58:
53:
51:
47:
43:
39:
35:
30:
19:
2047:Genetic code
1981:the Americas
1957:Quantitative
1927:Cytogenetics
1922:Conservation
1895:
1815:Introduction
1729:(2): 53–59.
1726:
1722:
1718:
1712:
1675:
1671:
1661:
1631:(9): 401–6.
1628:
1624:
1618:
1593:
1589:
1583:
1550:
1546:
1540:
1513:
1509:
1499:
1487:. Retrieved
1478:
1468:
1449:
1443:
1431:. Retrieved
1422:
1413:
1376:
1372:
1362:
1343:
1337:
1329:
1324:
1312:. Retrieved
1299:
1289:
1256:
1252:
1245:
1218:
1214:
1204:
1151:
1145:
1102:
1098:
1088:
1079:
1073:
1065:
971:
946:Polymorphism
863:
845:
827:
815:
791:galactosemia
777:A number of
776:
712:
567:
562:
558:
554:
550:
546:
542:
538:
534:
532:
427:
397:carbohydrate
388:
380:polymorphism
373:
356:of the iris.
338:pigmentation
327:
321:
320:, including
252:
248:
244:
226:
220:
212:co-dominance
203:heterozygote
192:
176:
169:
165:
139:
115:
111:heterozygous
88:
76:pigmentation
65:
54:
37:
33:
31:
29:
2027:Epigenetics
1678:: 125–133.
1516:(1): 1–27.
1332:pp. 125–160
844:. The term
797:(PKU), and
384:null allele
95:chromosomes
89:Nearly all
42:nucleotides
38:allelomorph
2161:Categories
2032:Geneticist
2006:South Asia
1952:Population
1932:Ecological
1901:Amino acid
1881:Nucleotide
1856:Chromosome
1719:Neurospora
1423:Genome.gov
1314:14 January
941:Penetrance
896:Allelotype
834:epigenetic
824:Epialleles
803:hemizygous
412:phenotypes
394:blood type
346:scattering
221:The term "
158:phenotypes
107:homozygous
61:base pairs
52:molecule.
1947:Molecular
1942:Microbial
1917:Classical
1723:BioEssays
1178:1064-3745
1119:0305-1048
1068:, "other"
906:Evolution
860:Idiomorph
846:epiallele
408:genotypes
334:phenotype
314:Eye color
223:wild type
199:recessive
136:Etymology
130:phenotype
2146:Category
2072:Heredity
2042:Genomics
1886:Mutation
1876:Heredity
1840:Glossary
1830:Timeline
1804:Genetics
1751:10818930
1672:Genetics
1653:36938621
1645:16868943
1610:12127774
1567:22290458
1532:12014997
1489:24 March
1483:Archived
1427:Archived
1419:"Allele"
1405:28696921
1308:Archived
1281:12076999
1237:12829588
1196:22307690
1137:10592272
901:Allozyme
873:See also
867:mycology
783:albinism
400:antigens
241:carriers
195:dominant
150:genetics
122:ABO gene
1825:History
1820:Outline
1743:2140508
1704:1398049
1695:1205111
1625:Genesis
1575:8654616
1396:5592921
1273:8641696
1187:4450815
936:Mitosis
921:Meiosis
376:species
366:In the
348:by the
340:of the
166:allelo-
103:diploid
48:, on a
18:Allelic
1991:Europe
1976:Africa
1910:Fields
1896:Allele
1871:Genome
1749:
1741:
1702:
1692:
1651:
1643:
1608:
1573:
1565:
1530:
1456:
1433:3 July
1403:
1393:
1350:
1279:
1271:
1235:
1194:
1184:
1176:
1166:
1135:
1128:102496
1125:
1117:
828:While
533:where
354:stroma
350:turbid
233:mutant
34:allele
2116:Lists
1996:Italy
1835:Index
1747:S2CID
1649:S2CID
1571:S2CID
1277:S2CID
1215:Blood
1066:állos
329:HERC2
177:alius
174:Latin
170:allos
162:Greek
46:locus
36:, or
1739:PMID
1700:PMID
1641:PMID
1606:PMID
1563:PMID
1528:PMID
1491:2010
1454:ISBN
1435:2021
1401:PMID
1348:ISBN
1316:2016
1269:PMID
1233:PMID
1192:PMID
1174:ISSN
1164:ISBN
1133:PMID
1115:ISSN
809:and
342:iris
326:and
323:OCA2
245:i.e.
214:and
154:gene
144:and
68:gene
1866:RNA
1861:DNA
1731:doi
1721:".
1690:PMC
1680:doi
1676:132
1633:doi
1598:doi
1555:doi
1518:doi
1391:PMC
1381:doi
1261:doi
1223:doi
1219:102
1182:PMC
1156:doi
1123:PMC
1107:doi
610:and
557:+ 2
391:ABO
255:).
197:or
84:pea
50:DNA
32:An
2163::
1969:of
1745:.
1737:.
1727:12
1725:.
1698:.
1688:.
1674:.
1670:.
1647:.
1639:.
1629:44
1627:.
1604:.
1594:18
1592:.
1569:.
1561:.
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1549:.
1526:.
1514:66
1512:.
1508:.
1477:.
1425:.
1421:.
1399:.
1389:.
1375:.
1373:G3
1371:.
1330:I.
1306:.
1302:.
1298:.
1275:.
1267:.
1257:97
1255:.
1231:.
1217:.
1213:.
1190:.
1180:.
1172:.
1162:.
1131:.
1121:.
1113:.
1103:28
1101:.
1097:.
1054:iː
1038::
1036:US
1032:;
1022:iː
1006:,
996:iː
980::
978:UK
869:.
813:.
793:,
789:,
785:,
697:1.
565:.
559:pq
547:pq
247:,
218:.
63:.
1796:e
1789:t
1782:v
1753:.
1733::
1706:.
1682::
1655:.
1635::
1612:.
1600::
1577:.
1557::
1534:.
1520::
1493:.
1462:.
1437:.
1407:.
1383::
1377:7
1356:.
1318:.
1283:.
1263::
1239:.
1225::
1198:.
1158::
1139:.
1109::
1060:/
1057:l
1051:l
1048:ˈ
1045:ə
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1028:/
1025:l
1019:l
1016:ˈ
1013:ə
1010:/
1002:/
999:l
993:l
990:æ
987:ˈ
984:/
757:.
752:2
748:)
745:1
742:+
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736:(
733:a
727:=
724:G
694:=
691:r
688:q
685:2
682:+
679:r
676:p
673:2
670:+
667:q
664:p
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658:+
653:2
649:r
645:+
640:2
636:q
632:+
627:2
623:p
597:1
594:=
591:r
588:+
585:q
582:+
579:p
563:q
555:p
551:q
543:p
539:q
535:p
517:1
514:=
509:2
505:q
501:+
498:q
495:p
492:2
489:+
484:2
480:p
455:1
452:=
449:q
446:+
443:p
253:p
249:p
20:)
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