WANG Chuanchao1, YAN Shi1,2, LI Hui1
1.MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China; 2. CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai 200031, China.
Key words: Surname; Y chromosome; Single nucleotide polymorphism (SNP); Short tandem repeat (STR); Family genealogy.
Recieved: Apr.28, 2010 Accepted: May.5, 2010 Corresponding: lihui.fudan@gmail.com
《现代人类学通讯》第四卷e5篇 第26-33页 2010年5月6日网上发行
专题综述
姓氏与Y染色体
王传超1,严实1,2,李辉1
1.复旦大学现代人类学教育部重点实验室,上海 200433;2.中国科学院上海计算生物学所,上海 200031.
摘要:人们的姓氏大多继承自父亲,而Y染色体是严格的父子相传的基因组片段。所以姓氏与Y染色体的遗传应该是平行的,有共同姓氏的男性可能有相同或相近的Y染色体类型。然而,多起源、改姓、非亲生、从母姓等社会因素弱化了某些姓氏与Y染色体的关联,此时家谱研究可为厘清父系血缘提供线索。Y染色体上稳定的SNP突变可以永远在父系后代中流传,可以构建可靠的父系基因谱系;而其上突变较快的STR位点又可以用以估算时间。因此,Y染色体可用以研究很多姓氏宗族的历史,甚至千百年前的历史疑案。重建姓氏、家谱与Y染色体的关系必将成为历史人类学研究的重要内容。
关键词:姓氏;Y染色体;单核苷酸多态(SNP);短串联重复(STR);家谱
收稿日期:2010年4月28日
修回日期:2010年5月5日
联系人:李辉
致谢
本研究得到复旦大学文科科研推进计划资金支持。 参考文献 References
1.范又琪 (1999) 姓氏起源.武汉:长江出版社.3-4.
2.袁义达,邱家儒 (2007) 中国姓氏·三百大姓.上海:华东师范大学出版社.
3.丹羽基二 (1997) 日本苗字大辞典.东京:芳文馆.
4.Darwin GH (1875)
Marriages between first cousins in
England and their effects.
J Statist Soc 38:153-184.
5.Crow JF, Mange JF (1965)
Measurement of inbreeding from the
frequency of marriages between
persons of the same surname.
Eugenics Q 12:199-203.
6. Roberts DF, Rawling CP (1974)
Secular trends in genetic structure:
an isonymic analysis of
Northumberland parish records.
Ann Hum Biol 1:393 -410.
7.Morton NE, Smith C, Hill R,
Frackiewicz A, Law
P, Yee
S (1976)
Population structure of Barra (Outer
Hebrides). Ann Hum Genet
39:339-352.
8. Shin EH, Yu EY (1984)
Use of Surnames in Ethnic Research:
The Case of Kims in the
Korean-American Population.
Demography 21: 347-360.
9.Lasker GW, Kaplan BA (1985)
Surnames and genetic structure:
Repetition of the same pairs of
names in married couples, a measure
of subdivision of the population.
Hum Biol 55:431-440.
10.Mascie-Taylor CGN, Lasker GW
(1985)
Geographical distribution of common
surnames in England and Wales.
Ann Hum Biol 12:397-401.
11.Pinto-Cisternas J, Pineda L,
Barrai I (1985)
Estimation of inbreeding by isonymy
in Iberoamerican populations: an
extension of the method of Crow and
Mange. Am J Hum Genet 37:
373-385.
12. Barrai I, Barbujani G, Beretta
M, Maestri I, Russo A, Formica G,
Pinto-Cisternas J (1987)
Surnames in ferrara: distribution,
isonymy and levels of inbreeding.
Ann Hum Biol 14:415-423.
13. Piazza A, Rendine S, Zei G,
Moroni A, Cavalli-Sforza LL (1987)
Migration rates of human populations
from surname distributions.
Nature 329:714-716.
14. Barrai I, Formica G, Barale R,
Beretta M (1989)
Isonymy and migration distance.
Ann Hum Genet 53:249-262.
15.Holloway S, Sofaer JA (1989)
Coefficients of relationship by
isonymy within and between the
regions of Scotland. Hum
Biol 61:87-97.
16. Mascie-Taylor CGN, Lasker GW
(1990)
The Distribution of Surnames in
England and Wales: A Model for
Genetic Distribution. Man
New Series 25:521-530.
17.Sokal R, Harding R, Mascie-Taylor
CGN (1992)
A spacial analysis of 100 surnames
in England and Wales. Ann
Hum Biol 19:445-476.
18.Rodríguez-Larraldea A, Pavesia A,
Scapolia C, Conterioa F, Siriaand G,
Barraia I (1994)
Isonymy and the genetic structure of
Sicily. J Biosoc Sci
26:9-24.
19.Mourrieras B, Darlu P, Kochez J
(1995)
Surname distribution in France: A
distance analysis by distorted
geographical map. Ann Hum
Biol 22:183-198.
20.Barrai I, Scapolia C, Beretta M,
Nesti C, Mamolini E, Rodríguez-Larralde
A (1996)
Isonymy and the genetic structure of
Switzerland. I. The distribution of
surnames. Ann Hum Biol
23:431-455.
21.Barrai I, Scapoli C, Beretta M
(1997)
Isolation by distance in Germany.
Hum Genet 100:684.
22.Rodríguez-Larralde A, Barrai I,
Nesti C (1998)
Isonymy and isolation by distance in
Germany. Hum Biol
70:1041-1056.
23.Barrai I, Rodríguez-Larralde A,
Mamolini E (1999)
Isonymy and isolation by distance in
Italy. Hum Biol
71:947-961.
24.Barrai I, Rodríguez-Larralde A,
Mamolini E (2000)
Elements of the surname structure of
Austria. Ann Hum Biol
27:607-622.
25.Rodríguez-Larralde A, Morales J,
Barrai I (2000)
Surname frequency and isonymy
structure of Venezuela.
Am J Hum Biol 12:352-362.
26.Barrai I, Rodríguez-Larralde A,
Mamolini E (2001)
Isonymy structure of USA population.Am J Phys Anthropol
114:109-123.
27.Barrai I, Rodríguez-Larralde A,
Manni F (2002)
Isonymy and isolation by distance in
the Netherlands. Hum Biol
74:263-283.
28.徐立群,李辉,奚慧峰,金力(2002)上海郊区姓氏和通婚分析.
遗传学报 29:666-673.
29.Rodriguez-Larralde A,
Gonzales-Martin A, Scapoli C, Barrai
I (2003)
The Names of Spain: A Study of the
Isonymy Structure of Spain.
Am J Phys Anthropol 121:280-292.
30.Dipierri JE, Alfaro EL, Scapoli
C, Mamolini E, Rodriguez-Larralde A,
Barrai I (2005)
Surnames in Argentina: A Population
Study Through Isonymy. Am
J Phys Anthropol 128:199-209.
31.Jorde LB, Morgan K (2005)
Genetic structure of Utah Mormons:
Isonymy analysis. Am J
Phys Anthropol 72:403 - 412.
32.Tay JSH, Yip WCL (2007)
The estimation of inbreeding from
isonymy: relationship to the average
inbreeding coefficient.
Ann Hum Genet 48:185 - 194.
33.Cook D, Hewitt D, Milner J (1972)
Uses of the surname in epidemiologic
research. Am J Epidemiol
95:38-45.
34.Abbotts J, Williams R, Smith GD
(1999)
Association of medical,physiological,
behavioural and socio-economic
factors with elevated mortality in
men of Irish heritage in West
Scotland. J Publ Health
Med 21:46-54.
35.Polednak AP (1996)
Estimating breast cancer incidence
in Hispanic women in Connecticut,
1989-1991. Ethn Health
1:229-235.
36.Quintana-Murci L, Krausz C,
McElreavey K (2001)
The human Y chromosome: function,
evolution and diease.
Forensic Sci Intl 118:169-181.
37.Jobling MA, Pandya A, Tyler-Smith
C (1997)
The Y chromosome in forensic
analysis and paternity testing.
Int J Legal Med 110: 118-124.
38.Kuroki Y, Toyoda A, Noguchi H,
Taylor TD, Itoh T, Kim DS, Kim DW,
Choi SH, Kim IC, Choi HH (2006)
Comparative analysis of chimpanzee
and human Y chromosomes unveils
complex evolutionary pathway.
Nat Genet 38:158-167.
39. Xue YL, Wang QJ, Long Q, Ng BL,
Swerdlow H, Burton J, Skuce C,
Taylor R, Abdellah Z, Zhao YL,
MacArthur DG, Quail MA, Carter NP,
Yang HM, Tyler-Smith C (2009)
Human Y Chromosome Base-Substitution
Mutation Rate Measured by Direct
Sequencing in a Deep-Rooting
Pedigree. Curr Biol
19:1453-1457.
40. International Human Genome
Sequencing Consortium (2001)
Initial sequencing and analysis of
the human genome. Nature
409:860-921.
41.Venter JC (2001)
The sequence of the human genome.
Science 291:1304-1351.
42.Jobling MA, Tyler-Smith C (2003)
The human Y chromosome:an
evolutionary marker comes of age.
Nat Rev Genet 4:598-612.
43.Underhill PA, Shen P, Lin AA, Jin
L, Passarino G, Yang WH, Kauffman E,
Bonné-Tamir B, Bertranpetit J,
Francalacci P, Ibrahim M, Jenkins T,
Kidd K, Mehdi SQ, Seielstad MT,
Wells RS, Piazza A, Davis RW,
Feldman MW, Cavalli-Sforza LL,
Oefner P (2000)
Y chromosome sequence variation and
the history of human populations.
Nat Genet 26:358-361.
44.Heyer E, Puymirat J, Dietjes P,
Bakker E, de Knijff P (1997)
Estimating Y chromosome specific
microsatellite mutation frequencies
using deep rooting pedigrees.
Hum Mol Genet 6:799-803.
45.Caglià A, Novelletto A, Dobosz M,
Malaspina P, Ciminelli BM, Pascali
VL (1997)
Y-chromosome STR loci in Sardinia and
continental Italy reveal
islander-specific haplotypes.
Eur J Hum Genet 5:288-92.
46.Jobling MA, Bouzekri N, Taylor PG
(1998)
Hypervariable digital DNA codes for
human paternal lineages: MVR-PCR at
the Y-specific minisatellite, MSY1
(DYF155S1). Hum Mol Genet
7:643-653.
47.Kayser M, CagliàA, Corach D,
Fretwell N, Gehrig C, Graziosi G,
Heidorn F, Herrmann S, Herzog B,
Hidding M, Honda K, Jobling M,
Krawczak M, Leim K, Meuser S, Meyer
E, Oesterreich W, Pandya A, Parson
W, Penacino G, Perez-Lezaun A,
Piccinini A, Prinz M, Schmitt C,
Schneider PM, Szibor R,
Teifel-Greding J, Weichhold G,
Knijff P, Roewer L (1997)
Evaluation of Y chromosomal STRs: a
multicenter study. Int J
Legal Med 110:125-133.
48.Kayser M, Roewer L, Hedman M,
Henke L, Henke J, Brauer S, Kruger
K, Krawczak M, Nagy M, Dobosz T,
Szibor R, de Knijff P, Sajantila A
(2000)
Characteristics and frequency of
germline mutations at microsatellite
loci from the human Y chromosome, as
revealed by direct observation in
father/son pairs. Am J
Hum Genet 66:1580-1588.
49. Forster P, Röhl A, Lünnemann P,
Brinkmann C, Zerjal T, Tyler-Smith
C, Brinkmann B (2000)
A Short Tandem RepeatBased Phylogeny
for the Human Y Chromosome.
Am J Hum Genet 67:182-196.
50. Holtkemper U, Rolf B, Hohoff C,
Forster P, Brinkmann B(2001)
Mutation rates at two human
Y-chromosomal microsatellite loci
using small pool PCR techniques.
Hum Mol Genet 10: 629-633.
51. Zhivotovsky LA, Underhill PA,
Cinnioğlu C, Kayser M, Morar B,
Kivisild T, Scozzari R, Cruciani F,
Destro-Bisol G, Spedini G, Chambers
GK, Herrera RJ, Yong KK, Gresham D,
Tournev I, Feldman MW, Kalaydjieva L
(2004)
The Effective Mutation Rate at Y
Chromosome Short Tandem Repeats,with
Application to Human
Population-Divergence Time.
Am J Hum Genet 74:50-61.
52. Ayub Q, Mohyuddin A, Qamar R,
Mazhar K, Zerjal T, Mehdi SQ,
Tyler-Smith C (2000)
Identification and characterisation
of novel human Y-chromosomal
microsatellites from sequence
database information.
Nucleic Acids Res 28(2):e8.
53.Jobling MA, Tyler-Smith C (1995)
Fathers and sons: the Y chromosome
and human evolution. Trends
Genet 11:449-456.
54.Su B, Xiao J, Underhill P, Deka
R, Zhang W, Akey J, Huang W, Shen D,
Lu D, Luo J, Chu J, Tan J, Shen P,
Davis R, Cavalli-Sforza LL,
Chakraborty R, Xiong M, Du R, Oefner
P, Chen Z, Jin L (1999)
Y chromosome Evidence for a
northward migration of modern humans
in East Asia during the last Ice Age. Am J Hum Genet 65:
1718-1724.
55.袁义达,张诚,马秋云,杨焕明(2000)中国人姓氏群体遗传I.姓氏频率分布与人群遗传分化. 遗传学报
27:471-476.
56.袁义达,张诚,杨焕明(2000)中国人姓氏群体遗传Ⅱ.姓氏传递的稳定性与地域人群的亲缘关系.
遗传学报 27:565-572.
57.袁义达,金锋,张诚(1999)宋朝中国人的姓氏分布与群体结构分化. 遗传学报 26: 187-197.
58.袁义达,张诚(2002)中国姓氏:群体遗传与人口分布.上海:华东师范大学出版社.
59.Legay JM, Vernay M (2000)
The distribution and geographical
origin of some French surnames.
Ann Hum Biol 27:587-605.
60.Giraldo A, Martínez I, Guzmán M
(1981)
A family with a satellited Yq
chromosome. Hum Genet
57:99-100.
61. Schmid M, Haaf T, Eva Solleder,
Schempp W, Leipoldt M, Heilbronner
H,Schmid M (1984)
Satellited Y chromosomes: structure,
origin and clinical significance.
Hum. Genet 67:72-85.
62.Sykes B, Irven C (2000)
Surname and the Y-chromosome.Am J Hum Genet 66: 1417-1419.
63.King TE, Ballereau SJ, Schurer
KE, Jobling MA (2006)
Genetic signatures of coancestry
within surnames. Curr
Biol 16: 384-388.
64.Hill EW, Jobling MA, Bradley DG
(2000)
Y chromosome variation and Irish
origins. Nature
404:351-352.
65.Wilson JF, Weiss DA, Richards M
(2001)
Genetic evidence for different male
and female roles during cultural
transitions in the British Isles.
Proc Natl Acad Sci USA 98:5078-5083.
66. Foster EA, Jobling MA, Taylor
PG, Donnelly P, de Knijff P, Rene
Mieremet, Zerjal T, Tyler-Smith C
(1998)
Jefferson fathered slave's last
child.
Nature 396: 27-28
67.Skorecki K, Selig S, Blazer S,
Bradman R, Bradman N, Warburton PJ,
Ismajlowicz M, Hammer MF (1997)
Y chromosomes of Jewish priests.
Nature 385:32
68.吴东颖,马素参,刘明,黄尚志,刘春芸(2000)应用Y染色体多态标记对汉族王姓亲缘关系的研究.
人类学学报 19:132-137.
69.邓志辉,李茜,王大明,高素青,曾健强(2007)深圳无偿献血人群中李姓、王姓和张姓无关男性个体Y-STR
单倍型遗传多态性.
遗传 29: 1336-1344.
70.Jobling MA (2001) In the name of the father: surnames
and genetics. Trends
Genet 17:353-357.
71.王鹤鸣(2009)中国家谱总目.
上海:上海古籍出版社.
72.赵世瑜(2006)祖先记忆、家园象征与族群历史—山西洪洞大槐树传说解析.
历史研究
1:49-64.