Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

W. Berger; A. Meindl; B. de Leeuw; A. de Roos; T. J.R. van de Pol; T. Meitinger; S. D. van der Velde-Visser; H. Achatz; A. Geurts van Kessel; F. P.M. Cremers; H. H. Ropers

doi:10.1007/BF00220070

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

W. Berger
, A. Meindl
, B. de Leeuw
, A. de Roos
, T. J.R. van de Pol
, T. Meitinger
, S. D. van der Velde-Visser
, H. Achatz
, A. Geurts van Kessel
, F. P.M. Cremers
, H. H. Ropers

Amalia Children's Hospital
Ludwig-Maximilians-Universität München

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.

Original language	English
Pages (from-to)	243-246
Number of pages	4
Journal	Human Genetics
Volume	90
Issue number	3
DOIs	https://doi.org/10.1007/BF00220070
State	Published - Nov 1992
Externally published	Yes

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Berger, W., Meindl, A., de Leeuw, B., de Roos, A., van de Pol, T. J. R., Meitinger, T., van der Velde-Visser, S. D., Achatz, H., van Kessel, A. G., Cremers, F. P. M., & Ropers, H. H. (1992). Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome. Human Genetics, 90(3), 243-246. https://doi.org/10.1007/BF00220070

@article{7a1d36eb39824a75ab8a4ea61995a087,

title = "Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome",

abstract = "Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.",

author = "W. Berger and A. Meindl and \{de Leeuw\}, B. and \{de Roos\}, A. and \{van de Pol\}, \{T. J.R.\} and T. Meitinger and \{van der Velde-Visser\}, \{S. D.\} and H. Achatz and \{van Kessel\}, \{A. Geurts\} and Cremers, \{F. P.M.\} and Ropers, \{H. H.\}",

year = "1992",

month = nov,

doi = "10.1007/BF00220070",

language = "English",

volume = "90",

pages = "243--246",

journal = "Human Genetics",

issn = "0340-6717",

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number = "3",

}

Berger, W, Meindl, A, de Leeuw, B, de Roos, A, van de Pol, TJR, Meitinger, T, van der Velde-Visser, SD, Achatz, H, van Kessel, AG, Cremers, FPM & Ropers, HH 1992, 'Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome', Human Genetics, vol. 90, no. 3, pp. 243-246. https://doi.org/10.1007/BF00220070

TY - JOUR

T1 - Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

AU - Berger, W.

AU - Meindl, A.

AU - de Leeuw, B.

AU - de Roos, A.

AU - van de Pol, T. J.R.

AU - Meitinger, T.

AU - van der Velde-Visser, S. D.

AU - Achatz, H.

AU - van Kessel, A. Geurts

AU - Cremers, F. P.M.

AU - Ropers, H. H.

PY - 1992/11

Y1 - 1992/11

N2 - Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.

AB - Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.

UR - https://www.scopus.com/pages/publications/0026498993

U2 - 10.1007/BF00220070

DO - 10.1007/BF00220070

M3 - Article

C2 - 1487237

AN - SCOPUS:0026498993

SN - 0340-6717

VL - 90

SP - 243

EP - 246

JO - Human Genetics

JF - Human Genetics

IS - 3

ER -

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

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