Abstract
Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.
| Original language | English |
|---|---|
| Pages (from-to) | 456-460 |
| Number of pages | 5 |
| Journal | Human Genetics |
| Volume | 74 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Dec 1986 |
Fingerprint
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Origin of new mutations in Duchenne muscular dystrophy. / Roncuzzi, Laura; Ferlini, Alessandra; Pirozzi, Adriana; Romeo, G.
In: Human Genetics, Vol. 74, No. 4, 12.1986, p. 456-460.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Origin of new mutations in Duchenne muscular dystrophy
AU - Roncuzzi, Laura
AU - Ferlini, Alessandra
AU - Pirozzi, Adriana
AU - Romeo, G.
PY - 1986/12
Y1 - 1986/12
N2 - Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.
AB - Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.
UR - http://www.scopus.com/inward/record.url?scp=0022878230&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022878230&partnerID=8YFLogxK
U2 - 10.1007/BF00280507
DO - 10.1007/BF00280507
M3 - Article
C2 - 2878873
AN - SCOPUS:0022878230
VL - 74
SP - 456
EP - 460
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -