SOMATIC STABILITY IN CHORIONIC VILLI SAMPLES AND OTHER HUNTINGTON FETAL TISSUES

被引：14

作者：

BENITEZ, J

ROBLEDO, M

RAMOS, C

AYUSO, C

ASTARLOA, R

YEBENES, JG

BRAMBATI, B

机构：

[1] FDN JIMENEZ DIAZ,DEPT NEUROL,E-28040 MADRID,SPAIN

[2] UNIV MILAN,DEPT OBSTET & GYNECOL,MILAN,ITALY

来源：

HUMAN GENETICS | 1995年 / 96卷 / 02期

关键词：

D O I：

10.1007/BF00207386

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.

引用

页码：229 / 232

页数：4

共 11 条

[1] THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE
ANDREW, SE
GOLDBERG, YP
KREMER, B
TELENIUS, H
THEILMANN, J
ADAM, S
STARR, E
SQUITIERI, F
LIN, BY
KALCHMAN, MA
GRAHAM, RK
HAYDEN, MR
[J]. NATURE GENETICS, 1993, 4 (04) : 398 - 403
[2] BENITEZ J, 1994, HUM GENET, V94, P563
[3] A POLYMORPHIC DNA MARKER GENETICALLY LINKED TO HUNTINGTONS-DISEASE
GUSELLA, JF
WEXLER, NS
CONNEALLY, PM
NAYLOR, SL
ANDERSON, MA
TANZI, RE
WATKINS, PC
OTTINA, K
WALLACE, MR
SAKAGUCHI, AY
YOUNG, AB
SHOULSON, I
BONILLA, E
MARTIN, JB
[J]. NATURE, 1983, 306 (5940) : 234 - 238
[4] KREMER B, 1994, NEW ENGL J MED, V30, P1401
[5] KREMER B, 1992, AM J HUM GENET, V50, P382
[6] GAMETIC BUT NOT SOMATIC INSTABILITY OF CAG REPEAT LENGTH IN HUNTINGTONS-DISEASE
MACDONALD, ME
BARNES, G
SRINIDHI, J
DUYAO, MP
AMBROSE, CM
MYERS, RH
GRAY, J
CONNEALLY, PM
YOUNG, A
PENNEY, J
SHOULSON, I
HOLLINGSWORTH, Z
KOROSHETZ, W
BIRD, E
VONSATTEL, JP
BONILLA, E
MOSCOWITZ, C
PENCHASZADEH, G
BRZUSTOWICZ, L
ALVIR, J
CONDE, JB
CHA, JH
DURE, L
GOMEZ, F
RAMOSARROYO, M
SANCHEZRAMOS, J
SNODGRASS, SR
DEYOUNG, M
WEXLER, NS
MACFARLANE, H
ANDERSON, MA
JENKINS, B
GUSELLA, JF
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (12) : 982 - 986
[7] RIESS O, 1993, HUM MOL GENET, V6, P637
[8] RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE
SNELL, RG
MACMILLAN, JC
CHEADLE, JP
FENTON, I
LAZAROU, LP
DAVIES, P
MACDONALD, ME
GUSELLA, JF
HARPER, PS
SHAW, DJ
[J]. NATURE GENETICS, 1993, 4 (04) : 393 - 397
[9] SOMATIC AND GONADAL MOSAICISM OF THE HUNTINGTON DISEASE GENE CAG REPEAT IN BRAIN AND SPERM
TELENIUS, H
KREMER, B
GOLDBERG, YP
THEILMANN, J
ANDREW, SE
ZEISLER, T
ADAM, S
GREENBERG, C
IVES, EJ
CLARKE, LA
HAYDEN, MR
[J]. NATURE GENETICS, 1994, 6 (04) : 409 - 414
[10] MITOTIC STABILITY AND MEIOTIC VARIABILITY OF THE (CAG)(N) REPEAT IN THE HUNTINGTON DISEASE GENE
ZUHLKE, C
RIESS, O
BOCKEL, B
LANGE, H
THIES, U
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2063 - 2067

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