Evidence that founder effect of the Ashkenazi mutation in Bloom's syndrome predates Jewish migration to Eastern Europe.

被引：0
|
作者：
German, J [1 ]
Ciocci, S [1 ]
Proytcheva, M [1 ]
Ye, T [1 ]
Ellis, NA [1 ]
机构：
[1] New York Blood Ctr, Lab Human Genet, New York, NY 10021 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1149
引用
收藏
页码：A199 / A199
页数：1
相关论文
共 21 条
  • [1] A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene
    Straughen, JE
    Johnson, J
    McLaren, D
    Proytcheva, M
    Ellis, N
    German, J
    Groden, J
    HUMAN MUTATION, 1998, 11 (02) : 175 - 178
  • [2] Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population
    Li, L
    Eng, C
    Desnick, RJ
    German, J
    Ellis, NA
    MOLECULAR GENETICS AND METABOLISM, 1998, 64 (04) : 286 - 290
  • [3] Bloom syndrome: Frequency of the 2281delATCTGAinsTAGATTC mutation in the Ashkenazi Jewish population
    Eng, CM
    Li, L
    Desnick, RJ
    German, J
    Ellis, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A198 - A198
  • [4] No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome
    Pesso, R
    Barkai, G
    Ravia, Y
    Gak, E
    Frydman, M
    Goldman, B
    Friedman, E
    HUMAN GENETICS, 1997, 101 (02) : 186 - 189
  • [5] No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome
    Rachel Pesso
    G. Barkai
    Yehoshua Ravia
    E. Gak
    Moshe Frydman
    Boleslaw Goldman
    E. Friedman
    Human Genetics, 1997, 101 : 186 - 189
  • [6] Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
    Chang, Wendy
    Winder, Thomas L.
    LeDuc, Charles A.
    Simpson, Lynn L.
    Millar, William S.
    Dungan, Jeffrey
    Ginsberg, Norman
    Plaga, Stacey
    Moore, Steven A.
    Chung, Wendy K.
    PRENATAL DIAGNOSIS, 2009, 29 (06) : 560 - 569
  • [7] Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient
    Benayoun, Liat
    Granot, Esther
    Rizel, Leah
    Allon-Shalev, Stavit
    Behar, Doron M.
    Ben-Yosef, Tamar
    MOLECULAR GENETICS AND METABOLISM, 2007, 90 (04) : 453 - 457
  • [8] Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281Δ6ins7 mutation
    Roa, BB
    Saving, CV
    Richards, CS
    GENETIC TESTING, 1999, 3 (02): : 219 - 221
  • [9] Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation
    Sybouts, Erin H.
    Brown, Adam D.
    Falcon-Cantrill, Maria G.
    Thomas, Martha H.
    DeNapoli, Thomas
    Voeller, Julie
    Chen, Yidong
    Tomlinson, Gail E.
    Bishop, Alexander J. R.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2021, 7 (02):
  • [10] A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
    Webb, B. D.
    Brandt, T.
    Liu, L.
    Jalas, C.
    Liao, J.
    Fedick, A.
    Linderman, M. D.
    Diaz, G. A.
    Kornreich, R.
    Trachtman, H.
    Mehta, L.
    Edelmann, L.
    CLINICAL GENETICS, 2014, 86 (02) : 155 - 160
123