A TOOL FOR THE MOLECULAR ANALYSIS OF AN EARLY LETHAL DISEASE - SLIDE-PCR IN SPINAL MUSCULAR-ATROPHY PATIENTS

被引：7

作者：

CAPON, F

MELCHIONDA, S

GENNARELLI, M

LOCICERO, S

GIACANELLI, M

NOVELLI, G

DALLAPICCOLA, B

机构：

[1] UNIV TOR VERGATA, DIPARTIMENTO SANITA PUBBL & BIOL CELLULARE, ROME, ITALY

[2] OSPED SAN CAMILLO LELLIS, DIV NEUROL, ROME, ITALY

[3] OSPED CSS SAN GIOVANNI ROTONDO, SAN GIOVANNI ROTONDO, ITALY

[4] UNIV CATTOLICA SACRO CUORE, CATTEDRA GENET UMANA, I-00168 ROME, ITALY

来源：

MOLECULAR AND CELLULAR PROBES | 1993年 / 7卷 / 03期

关键词：

SLIDE-PCR; MICROSATELLITES; SPINAL MUSCULAR ATROPHY;

D O I：

10.1006/mcpr.1993.1032

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

DNA was recovered from sections of muscles biopsies of 20 spinal muscular atrophy (SMA) patients fixed on microscopic slides and stored from one to 20 years at room temperature. Microsatellite DNA markers tightly linked to the SMA locus were amplified using the polymerase chain reaction (PCR) to obtain specific amplified products. The procedure was successful in all cases, and allowed prenatal diagnosis in one at-risk pregnancy. In our hands this procedure is quick, sensitive and reproducible. © 1993 Academic Press, Limited.

引用

页码：221 / 226

页数：6

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