Transthyretin isoleucine-122 mutation in African and American blacks

被引：10

作者：

Afolabi, I

Asl, KH

Nakamura, M

Jacobs, P

Hendrie, H

Benson, MD

机构：

[1] Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

[2] Wynberg Hosp, Dept Hematol, Cape Town, South Africa

[3] Indiana Univ, Sch Med, Dept Psychiat, Indianapolis, IN 46202 USA

[4] Richard L Roudebush Vet Affairs Med Ctr, Indianapolis, IN 46202 USA

来源：

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION | 2000年 / 7卷 / 02期

关键词：

transthyretin; hereditary; amyloidosis; cardiomyopathy; isoleucine-122;

D O I：

10.3109/13506120009146249

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The gene frequency of the transthyretin (TTR) mutation (Val122Ile) was studied in African and African-American populations. The African populations analyzed included the Zulu and Xhosa of South Africa, and Yorubas from the city of Ibadan, Nigeria. The African-American population included patients at the Veterans Affairs (VA) Medical Center, Indianapolis, and newborns from a local hospital in Indianapolis. The Val122Ile TTR mutation was identified in 1 of 55 Zulu, 0 of 34 Xhosa, 0 of 9 Nigerian subjects, 5 of 51 Veteran patients, and 3 of 103 newborns. Assuming the 2.91 % prevalence in newborns to be the norm, there is a significant increased prevalence in the VA patient population.

引用

页码：121 / 125

页数：5

共 15 条

[1]

[Anonymous], 1981, BLACK MIGRATION AM S

[2] Transthyretin amyloidosis [J].

Benson, MD ;

Uemichi, T .

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1996, 3 (01) :44-56

[3]

CURTIN P, 1969, ATLANTIC SLAVE

[4] SYSTEMIC SENILE AMYLOIDOSIS - IDENTIFICATION OF A NEW PREALBUMIN (TRANSTHYRETIN) VARIANT IN CARDIAC TISSUE - IMMUNOLOGICAL AND BIOCHEMICAL SIMILARITY TO ONE FORM OF FAMILIAL AMYLOIDOTIC POLYNEUROPATHY [J].

GOREVIC, PD ;

PRELLI, FC ;

WRIGHT, J ;

PRAS, M ;

FRANGIONE, B .

JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (03) :836-843

[5] Revised transthyretin Ile 122 allele frequency in African-Americans [J].

Jacobson, DR ;

Pastore, R ;

Pool, S ;

Malendowicz, S ;

Kane, I ;

Shivji, A ;

Embury, SH ;

Ballas, SK ;

Buxbaum, JN .

HUMAN GENETICS, 1996, 98 (02) :236-238

[6]

Jacobson DR, 1997, TEX HEART I J, V24, P45

[7]

JACOBSON DR, 1992, AM J HUM GENET, V50, P195

[8]

JACOBSON DR, 1991, AM J HUM GENET, V49, P192

[9]

NICHOLS WC, 1991, J LAB CLIN MED, V117, P175

[10] RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].

ORITA, M ;

SUZUKI, Y ;

SEKIYA, T ;

HAYASHI, K .

GENOMICS, 1989, 5 (04) :874-879

← 1 2 →