A PUTATIVE GENE FAMILY IN 15Q11-13 AND 16P11.2 - POSSIBLE IMPLICATIONS FOR PRADER-WILLI AND ANGELMAN SYNDROMES

被引：50

作者：

BUITING, K

GREGER, V

BROWNSTEIN, BH

MOHR, RM

VOICULESCU, I

WINTERPACHT, A

ZABEL, B

HORSTHEMKE, B

机构：

[1] UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMAN GENET,W-4300 ESSEN 1,GERMANY

[2] WASHINGTON UNIV,SCH MED,CTR GENET MED,ST LOUIS,MO 63110

[3] UNIV FREIBURG,INST HUMAN GENET & ANTHROPOL,W-7800 FREIBURG,GERMANY

[4] UNIV MAINZ,KINDERKLIN,W-6500 MAINZ,GERMANY

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1992年 / 89卷 / 12期

关键词：

D O I：

10.1073/pnas.89.12.5457

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The genetic defects in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) map to 15q11-13. Using microdissection, we have recently isolated several DNA probes for the critical region. Here we report that microclone MN7 detects multiple loci in 15q11-13 and 16p11.2. Eight yeast artificial chromosome (YAC) clones, two genomic phage clones, and two placenta cDNA clones were isolated to analyze these loci in detail. Two of the YAC clones map to 16p. Six YAC clones and two genomic phage clones contain a total of four or rive different MN7 copies, which are spread over a large distance within 15q11-13. One cDNA clone is from chromosome 15 and one is from chromosome 16. The chromosome 15 cDNA detects transcripts of 14 and 8 kilobases in various human tissues. The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders.

引用

页码：5457 / 5461

页数：5

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