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通过新生儿查和下一代测序来确定的男性的马赛克X链接上腺细胞衰竭

Alexandra C Keefe^1,2, Dana M Jensen³, Meranda M Pham³

¹University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA. alexandra.keefe@seattlechildrens.org.

NPJ genomic medicine

|May 9, 2025

概括

人体马赛克,细胞之间的遗传差异,可以导致X-链接的上腺核衰竭 (X-ALD). 这项研究在1.8%的男性中发现了马赛克主义,影响了新生儿查 (NBS) 的情况.

科学领域:

遗传学是一个遗传学.
人体生理学人体生理学
生物化学生物化学

背景情况:

个体内细胞之间的遗传差异,体内马赛克主义,有助于表型变异.
检测低级别的马赛克,特别是X链接基因,对于理解遗传疾病至关重要,但在技术上仍然具有挑战性.
链接X的 adrenoleukodystrophy (X-ALD) 是一种由ABCD1变异引起的神经代谢障碍,包括在新生儿查 (NBS) 中.

研究的目的:

确定和估计X-ALD (X-ALD) 的男性体质马赛克症的发生率.
评估马赛克主义对X-ALD.新生儿查 (NBS) 的影响.
研究ABCD1变异在马赛克个体不同组织中的分布.

主要方法:

在两个实验室的227名男性中,ABCD1基因的下一代测序 (NGS).
从马赛克个体的多种组织中对等基因特异性测量的分析.
基于检测到的ABCD1变异的体质马赛克症发病率的估计.

主要成果:

鉴定了六名患有马赛克X链接上腺核衰竭 (X-ALD) 的男性.
在测试的男性中,马赛克致病或可能致病的ABCD1变体的发病率为1.8% (4/227).
在一个马赛克个体中,ABCD1变体的等位基因分数在不同的组织中从66%到82%不等.

结论:

阴性马赛克是X-链接上腺核衰竭 (X-ALD) 的重要因素,影响诊断准确性.
这些发现强调了在解释X-ALD新生儿查 (NBS) 结果时需要考虑马赛克主义的必要性.
进一步的研究是有必要的,以了解X-ALD的发病和自然史在体质马赛克的背景下.

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相关概念视频

Pedigree Analysis

Pedigree Analysis

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.