Abstract The genetic origin of Tibetans was investigated
using Y chromosome markers. A total of three popula-
tions were studied, two from central Tibet speaking cen-
tral Tibetan and one from Yunnan speaking Kham. Two
dominant paternal lineages (>80%) were identified in all
three populations with one possibly from central Asia
(YAP+) and the other from east Asia (M122C). We con-
clude that Tibetan Y chromosomes may have been de-
rived from two different gene pools, given the virtual ab-
sence of M122C in central Asia and YAP+ in east Asia,
with drift an unlikely mechanism accounting for these ob-
servations.
Tibetans is a general term for people who live in the Hi-
malayan mountain area and speak languages under the Ti-
betan branch of the Tibeto-Burman subfamily of the Sino-
Tibetan family (Matisoff 1991). The three main language
groups in this branch are the central, northern, and south-
ern. People who speak central and northern Tibetan are
mainly distributed in China (Tibet, Sichuan and Yunnan),
while the southern Tibetan speakers live in the southern
Himalayan region, e.g., India, Bhutan and Nepal. Histori-
cally, it is well known that Tibetans diverged from north-
ern east Asians, which has been confirmed by genetic
studies using classical autosomal markers (Du and Xiao
1999) and microsatellite markers (Chu et al. 1998). How-
ever, the strong presence of YAP+ in Tibetans, an Alu in-
sertion polymorphism with only sporadic occurrence in
other east Asian populations except Japanese (Hammer et
al. 1997; Su et al. 1999), contradicts this observation, sug-
gesting a significant genetic influence from central Asia
(Altheide and Hammer 1997). Our recent study of three
Tibetan populations using 19 Y chromosome biallelic
markers showed that Tibetans are derived from multiple
genetic sources.
Three Tibetan populations were sampled, two popula-
tions from central Tibet (Lhasa and Shigatse), and one
population from Zhongdian (northwestern Yunnan). The
former populations are called Zang (Tsang) who speak Ti-
betan that belongs to the central Tibetan branch, while the
latter is called Khamba who speak Kham, a northern Ti-
betan language. A total of 19 Y chromosome biallelic
markers were typed for the three populations. A descrip-
tion of the markers can be found in Su et al. (1999).
In the three Tibetan populations, we observed ten Y
haplotypes (see Table1). No significant difference be-
tween the peoples from Lhasa and Shigatse was observed.
Clearly, both Zang and Khamba populations are predomi-
nated by two haplotype groups defined by the YAP+ (H2
and H3) and M122C (H6 and H8), which encompass
about 80% of their gene pools, indicating a common ori-
gin of those two populations.
The YAP+ is an ancient polymorphism that originated
from central Asia (Altheide and Hammer 1997) and was a
major contribution to the Tibetan populations (41.3% in
Zang and 44.4% in Khamba). Our previous study on ex-
tant east Asian populations showed that M122C (defining
H6, H7 and H8) is predominant in east Asian populations,
especially in Han Chinese (54.1% on average) (Su et al.
1999) but it is nearly absent in other world populations,
including central Asians (R.S. Wells, personal communi-
cation). Therefore, the high frequency of M122C in the
Tibetan population (>35%) reflects a genetic source
rooted from east Asian populations where YAP+ is virtu-
ally absent. The presence of H5 in the Khamba population
may reflect its interaction with local populations in Yun-
nan which have relatively abundant H5 (Su et al. 1999).
Yaping Qian · Binzhi Qian · Bing Su · Jiankun Yu ·
Yuehai Ke · Zhengtao Chu · Lei Shi · Daru Lu ·
Jiayou Chu · Li Jin
Multiple origins of Tibetan Y chromosomes
Hum Genet (2000) 106 :453–454
Digital Object Identifier (DOI) 10.1007/s004390000259
Received: 26 November 1999 / Accepted: 28 January 2000 / Published online: 8 March 2000
SHORT REPORT
Y. Qian · J. Yu · Z. Chu · L. Shi · J. Chu
Institute of Medical Biology,
The Chinese Academy of Medical Sciences,
Kunming, Yunnan, China
B. Qian · D. Lu · L. Jin
Institute of Genetics and Morgan-Tan International Center
for Life Sciences, Fudan University, Shanghai, China
B. Su · Y. Ke · L. Jin (✉)
Human Genetics Center, University of Texas Houston,
6901 Bertner, Houston, Texas, 77030, U.S.A.
e-mail: ljin@utsph.sph.uth.tmc.edu,
Tel.: +1-713-5009846, Fax: +1-713-5000900
© Springer-Verlag 2000
A06
In conclusion, Tibetan Y chromosomes may have been
derived from two different gene pools, one from central
Asia and the other from east Asia. Our preliminary work
provides a logical foundation for further systematic ge-
netic study on the origin and prehistoric migrations of
Sino-Tibetan speaking populations. To this end, more loci
should be studied to examine the possible influence of ge-
netic drift in shaping the observed pattern.
Acknowledgement B.S. and L.J. were supported by NIH grants.
Y.Q., B.Q., J.Y., Y.K., J.C. and D.L. were supported by a grant
from National Natural Science Foundation of China. J.C. was also
supported by Chinese Medicine Board, USA.
References
Altheide TK, Hammer MF (1997) Evidence for a possible Asian
origin of YAP+ Y chromosomes. Am J Hum Genet
61:462–466
Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang
ZQ, et al (1998) Genetic relationship of populations in China.
Proc Natl Acad Sci USA 95:11763–11768
Du RF, Xiao CJ (1997) Genetic distances between Chinese popu-
lations calculated on gene frequencies of 38 loci. Science in
China (Series C) 40:613–621
Hammer MF, Spurdle AB, Karafet T, Bonner MR, Wood ET,
Novelletto A, Malaspina P, et al (1997) The geographic distri-
bution of human Y chromosome variation. Genetics 145:787–
805
Matisoff JA (1991) Sino-Tibetan linguistics: present state and fu-
ture prospects. Ann Rev Anthropol 20:469–504
Su B, Xiao JH, Underhill P, Deka R, Zhang WL, Akey J, Huang W
(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
454
Table 1 Y chromosome haplotype distribution in Tibetan and Han Chinese populations. Refer to Su et al. (1999) for the detailed de-
scriptions of the haplotypes
Population H1 H2 H3 H4 H5 H6 H7 H8 H9 H11 H12 H13 H14 Size
Tibetan-Zang 8.7 23.9 17.4 4.3 4.3 34.8 2.2 2.2 2.2 46
Tibetan-Khamba 14.8 29.6 3.7 14.8 7.4 29.6 27
S. Han Chinese 8.1 0.4 1.4 12.7 25 1.8 27.6 17.3 3.5 0.7 1.4 283
N. Han Chinese 8.5 2.4 21.9 29.3 23.2 9.8 4.9 82
A06
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