Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene

B. Glaser; K. C. Chiu; R. Anker; A. Nestorowicz; H. Landau; H. Ben-Bassat; Z. Shlomai; N. Kaiser; P. S. Thornton; C. A. Stanley; R. S. Spielman; K. Gogolin- Ewens; E. Cerasi; L. Baker; J. Rice; H. Donis-Keller; M. A. Permutt

Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene

B. Glaser
, K. C. Chiu
, R. Anker
, A. Nestorowicz
, H. Landau
, H. Ben-Bassat
, Z. Shlomai
, N. Kaiser
, P. S. Thornton
, C. A. Stanley
, R. S. Spielman
, K. Gogolin- Ewens
, E. Cerasi
, L. Baker
, J. Rice
, H. Donis-Keller
, M. A. Permutt

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

Abstract

Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non-Jewish Caucasian) mapped HI to chromosome 11p14-15.1 (lod score = 9.5, θ = O at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p=0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose-regulated insulin secretion, represents a candidate gene for studies of other diseases of β-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).

Original language	English
Pages (from-to)	185-188
Number of pages	4
Journal	Nature Genetics
Volume	7
Issue number	2
State	Published - Jun 1994

Cite this

Glaser, B., Chiu, K. C., Anker, R., Nestorowicz, A., Landau, H., Ben-Bassat, H., Shlomai, Z., Kaiser, N., Thornton, P. S., Stanley, C. A., Spielman, R. S., Gogolin- Ewens, K., Cerasi, E., Baker, L., Rice, J., Donis-Keller, H., & Permutt, M. A. (1994). Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene. Nature Genetics, 7(2), 185-188.

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title = "Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene",

abstract = "Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non-Jewish Caucasian) mapped HI to chromosome 11p14-15.1 (lod score = 9.5, θ = O at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p=0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose-regulated insulin secretion, represents a candidate gene for studies of other diseases of β-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).",

author = "B. Glaser and Chiu, \{K. C.\} and R. Anker and A. Nestorowicz and H. Landau and H. Ben-Bassat and Z. Shlomai and N. Kaiser and Thornton, \{P. S.\} and Stanley, \{C. A.\} and Spielman, \{R. S.\} and \{Gogolin- Ewens\}, K. and E. Cerasi and L. Baker and J. Rice and H. Donis-Keller and Permutt, \{M. A.\}",

year = "1994",

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journal = "Nature Genetics",

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T1 - Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene

AU - Glaser, B.

AU - Chiu, K. C.

AU - Anker, R.

AU - Nestorowicz, A.

AU - Landau, H.

AU - Ben-Bassat, H.

AU - Shlomai, Z.

AU - Kaiser, N.

AU - Thornton, P. S.

AU - Stanley, C. A.

AU - Spielman, R. S.

AU - Gogolin- Ewens, K.

AU - Cerasi, E.

AU - Baker, L.

AU - Rice, J.

AU - Donis-Keller, H.

AU - Permutt, M. A.

PY - 1994/6

Y1 - 1994/6

N2 - Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non-Jewish Caucasian) mapped HI to chromosome 11p14-15.1 (lod score = 9.5, θ = O at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p=0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose-regulated insulin secretion, represents a candidate gene for studies of other diseases of β-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).

AB - Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non-Jewish Caucasian) mapped HI to chromosome 11p14-15.1 (lod score = 9.5, θ = O at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p=0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose-regulated insulin secretion, represents a candidate gene for studies of other diseases of β-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).

UR - https://www.scopus.com/pages/publications/0028236583

M3 - Article

C2 - 7920639

AN - SCOPUS:0028236583

SN - 1061-4036

VL - 7

SP - 185

EP - 188

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene

Abstract

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