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Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population by Ikuko Takahashi; Tsutomu Takahashi; Masaki Komatsu; Jun Matsuda; Goro Takada is a Medicine article available to read on EtoBox.

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**Abstract** **__Background__**: Leydig insulin‐like hormone (Insl3), a member of the insulin‐like superfamily, is specifically expressed in Leydig cells of fetal and postnatal murine testis. Recently, the absence of the __Insl3__ gene has been reported to result in bilateral cryptorchidism in male mice and it has been suggested that mutations of the __INSL3__ gene may cause cryptorchidism in humans. **__Methods__**: We sequenced the __INSL3__ gene from five Japanese patients with sporadic bilateral cryptorchidism. Patients’ genome DNA was prepared from blood leukocytes. Two exons of the __INSL3__ gene were amplified by polymerase chain reaction and were sequenced directly. A restriction fragment length polymorphism assay was performed on 70 control samples for analysis of polymorphism. **__Results__**: Three of five cases had a heterozygous single‐base change, a G to A transition at position 178 of the __INSL3__ gene, which predicts an alanine (GCC) to threonine (ACC) change at codon 60 (designated A60T). However, the A60T mutation was also found in the normal Japanese population at an allele frequency of 26%, which suggests that this mutation is a common polymorphism and is not a

Who reads Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population?

Author

Ikuko Takahashi; Tsutomu Takahashi; Masaki Komatsu; Jun Matsuda; Goro Takada

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 1328-8067)

Published

2001

Language

EN

Field

Medicine (Health Sciences)