TY - JOUR
T1 - Linkage studies in peripheral neurofibromatosis
AU - Pericak-Vance, M. A.
AU - Yamaoka, L. H.
AU - Vance, J. M.
AU - Aylsworth, A. S.
AU - Rossenwasser, G. O D
AU - Gaskell, P. C.
AU - Alberts, M. J.
AU - Hung, W. Y.
AU - Haynes, C.
AU - Roses, A. D.
PY - 1987
Y1 - 1987
N2 - Peripheral neurofibromatosis (NF) is one of the most common major genetic disorders in man. Its chromosomal location is unknown and questions regarding such factors as genetic heterogeneity remain unanswered. We have ascertained and sampled several large multi-generation families for linkage studies including one family of 66 subjects, 28 of whom were affected with NF. Recombinant DNA studies of several restriction fragment length polymorphisms (RFLPs) including C3, ApoC2, pBam34 (D19S6], HAUP[APRT], pE40-1[D11521], Hp[Hp2α], LDR92, and LDR111 failed to show a significant linkage (Z[lod score]≥3.00) in this family. In addition, the results excluded areas of the genome around the marker loci (Z≤-2.00) as potential sites for linkage. The maximum Z obtained with the markers was for Hp at Θ (maximum recombination fraction)=0.20 and Z=0.399. We are now in the process of screening additional RFLPs and families for linkage to NF.
AB - Peripheral neurofibromatosis (NF) is one of the most common major genetic disorders in man. Its chromosomal location is unknown and questions regarding such factors as genetic heterogeneity remain unanswered. We have ascertained and sampled several large multi-generation families for linkage studies including one family of 66 subjects, 28 of whom were affected with NF. Recombinant DNA studies of several restriction fragment length polymorphisms (RFLPs) including C3, ApoC2, pBam34 (D19S6], HAUP[APRT], pE40-1[D11521], Hp[Hp2α], LDR92, and LDR111 failed to show a significant linkage (Z[lod score]≥3.00) in this family. In addition, the results excluded areas of the genome around the marker loci (Z≤-2.00) as potential sites for linkage. The maximum Z obtained with the markers was for Hp at Θ (maximum recombination fraction)=0.20 and Z=0.399. We are now in the process of screening additional RFLPs and families for linkage to NF.
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U2 - 10.1136/jmg.24.9.530
DO - 10.1136/jmg.24.9.530
M3 - Article
C2 - 3118033
AN - SCOPUS:0023281171
SN - 0022-2593
VL - 24
SP - 530
EP - 532
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 9
ER -