1. Clasificación por tamaño de unidad

  • STR (microsatélites): 1-6 pb → grueso de patología neurológica
  • VNTR (sentido amplio): número variable de copias, unidad mayor
  • Minisatélites clásicos: 10-60 pb (INS, MUC1)
  • Macrosatélites: miles de pb — mismo principio (nº variable de copias), unidad muchísimo mayor (FSHD/D4Z4)

2. Por qué son inestables (mecanismo común)

  • Deslizamiento de la ADN polimerasa durante replicación
  • Hebra naciente se disocia y reasocia en registro desplazado → bucle
  • Bucle en hebra naciente → expansión
  • Bucle en hebra molde → contracción
  • A mayor longitud previa, mayor probabilidad de bucle → inestabilidad no lineal tras umbral crítico (normal → premutación → mutación completa)

Consecuencia clínica: anticipación genética = manifestación fenotípica de esta inestabilidad meiótica creciente (sesgo paterno o materno según la enfermedad).

3. Tres mecanismos según localización de la repetición (bloque STR)

A) Exón codificante, tripletes (CAG=poliQ)

  • Proteína anómala con tracto de poliglutamina
  • Mal plegamiento → agregación intranuclear
  • Ganancia de función tóxica, dominante
  • Ej.: Huntington, SCAs, Kennedy (ligada a X)

B) Región no codificante (UTR, intrón), gran expansión

  • Silenciamiento epigenético → hipermetilación → pérdida de función (X frágil, Friedreich)
  • Toxicidad de ARN → secuestro de proteínas de splicing por ARN mensajero con repetición expandida (miotónica, C9orf72)
STR引起的神经系统疾病。
缩写表型（MIM 编号）基因继承方式重复主题基因上的位置致病性重复次数a染色体坐标 (hg38)临床表型参考
C9-FTD
C9-ALS
(#10550)		C9orf72广告。GGGGCC5' 区域24–4000chr92757348527573546额颞叶痴呆、肌萎缩侧索硬化症[32, 47, 65]
帆布
(#614575)		RFC1A.R.（阿格格）400–2000
（ACAG）经验值
AAAAG（正常）		内含子2400–2000染色体43934842539348483小脑性共济失调、神经病和前庭无反射综合征[11, 28, 138]
DM1
(#160900)		DMPK广告。CTG
（中断：CCG）		3’区域50–10,000第19位基因4577020545770266强直性肌营养不良1[60, 176]
DM2
(#602668)		中国国家石油公司 (ZNF9)广告。CCTG内含子150–11,000chr3129172577129172656强直性肌营养不良2[176]
DRPLA
(#125370)		ATN1广告。冠状动脉造影外显子549–93chr1269367176936775齿状红核-苍白球路易体萎缩[78]
EIEE1/XLID
(#308350)
(#300419)
(#300215)		阿尔克斯XL海湾合作委员会外显子217–27chrX2501365425013697疾病的临床谱，包括发育性脑病和癫痫性脑病 1、伴有生殖器异常的积水性无脑畸形、X 连锁无脑畸形 2 和 X 连锁智力低下 29[73, 150]
名誉1 (#601068)SAMD12广告。TTCA
在 TTTTA 重复区域内		内含子4105–3680chr8118366813118366918家族性成人肌阵挛性癫痫 1[22, 68]
FAME2
(#607876)		标准7广告。ATTTC
在 ATTTT 重复区域内		内含子1150–460chr29619706796197124家族性成人肌阵挛性癫痫2[27]
FAME3
(#613608)		3月6日广告。TTCA
在 TTTTA 重复区域内		内含子1700–1035chr51035633910356411家族性成人肌阵挛性癫痫 3[40]
FAME6
(#618074)		TNRC6A广告。TTCA
在 TTTTA 重复区域内		内含子1?
（只有1个家庭）		chr162461343924613532家族性成人肌阵挛性癫痫 6[68]
FAME7
(#618075)		RAPGEF2广告。TTCA
在 TTTTA 重复区域内		内含子14?
（只有1个家庭）		染色体4159342527159342618家族性成人肌阵挛性癫痫 7[68]
弗拉克斯
(#309548)		FMR2 (AF2)卡侬海湾合作委员会5' 区域 > 200chrX148500605148500753精神发育迟滞，X连锁，FRAXE型[53]
FRDA
(#229300)		FXNA.R.GAA内含子166–1300chr96903727569037314弗里德赖希共济失调[5, 19, 162]
FXS
(#300624)
福克斯塔斯
(#300623)		FMR1XLCGG5' 区域200–3000
55–200		chrX147911979147912111脆性X综合征
脆性 X 震颤/共济失调综合征、卵巢早衰 1		[162]
[56]
高清
(#143100)		高温试验广告。冠状动脉造影
（中断：CAA）		外显子136–250染色体430748763074941亨廷顿病[96, 101]
高密度脂蛋白1
(#603218)		PRNP广告。24碱基
八肽 PHGGGWGQ		外显子28–14chr2046993794699380亨廷顿病样 1[108]
高密度脂蛋白2
(#606438)		JPH3广告。CTG外显子2A40–59chr168760428387604329亨廷顿病样2[62]
汉密尔顿大众WA1A.R.GGCGCGGAGC外显子13chr114357991435820遗传性轴突运动神经病[121]
NIID
(#603472)		NOTCH2NLC广告。CGG5′区域66–517chr1149390803149390842神经元核内包涵体病[55, 118, 146]
OPDM1
(#164310)		LRP12广告。CGG5′区域90–130chr8104588965104588999眼咽远端肌病[69]
OPDM2
(#618940)		GIPC1广告。CGG5' 区域70–164第19位基因1449602914496104眼咽远端肌病[172]
OPMD
(#164300)		PABPN1广告。G.C.G.外显子17–18chr142332147223321511眼咽肌营养不良症[15, 129]
OPML1
(#618637)		NUTM2B-AS1广告。CGG5′区域16–160chr107982636479826403眼咽肌病伴白质脑病 1[69]
SBMA
(#313200)		A.R.卡侬冠状动脉造影外显子138–68chrX6754531767545419肯尼迪脊髓和延髓肌萎缩症（肯尼迪病）[44, 82, 147]
SCA1
(#164400)		ATXN1广告。冠状动脉造影
（中断：CAT）		外显子839–91chr61632763616327723脊髓小脑共济失调1[120, 141]
SCA2
(#183090)		ATXN2广告。冠状动脉造影
（中断：CAA、CGG、CGC）		外显子133–200
(29–32
ALS 风险增加）		chr12111598950111599019脊髓小脑共济失调2[18, 133, 141, 148]
SCA3
(#109150)		ATXN3广告。冠状动脉造影外显子1053–87chr149207101192071052脊髓小脑共济失调3[74]
SCA6
(183086)		CACNA1A广告。冠状动脉造影外显子 4719–33第19位基因1320785813207897脊髓小脑共济失调 6[141, 181]
SCA7
(#164500)		ATXN7广告。冠状动脉造影外显子134–460chr36391268563912716脊髓小脑共济失调7[18, 30]
SCA8
(#608768)		ATXN8广告。CAG/标签3'UTR74–1300chr137013938370139428脊髓小脑共济失调8[79, 141, 155]
SCA10
(#603516)		ATXN10广告。ATTCT
（中断：ATCCT）		内含子9280–4500chr224579535545795424脊髓小脑共济失调 10[88, 100, 141]
SCA12
(#604326)		PPP2R2B广告。冠状动脉造影5' 区域51–78chr5146878729146878758脊髓小脑共济失调 12[63, 94, 141]
SCA17
(#607136)		待定时间广告。冠状动脉造影
（中断：CAT、CAA）		外显子343–66chr6170561907170562017脊髓小脑性共济失调 17，亨廷顿病样 4[97, 115, 141]
SCA31
(#117210)		豆1广告。TGAA
在 TAAAA 和 TAGAA 重复区域内		内含子/
基因间区		500–760
(> 110 TGGAA 重复)		chr166649547566495509脊髓小脑共济失调 31[134]
SCA36
(#614153)		诺普56广告。GGCCTG内含子1650–2500chr2026527332652775脊髓小脑共济失调 36[77]
SCA37
(#615945)		DAB1广告。ATTTC
在（ATTTT）内7–400 重复区域		5' 区域31–75chr15736704457367125脊髓小脑共济失调 37[139]
集装式
(#254800)		科学技术委员会A.R.CCCCGCCCCGCG上游
5'UTR		30–125chr214377644443776479进行性肌阵挛癫痫 1A（Unverricht 和 Lundborg 病）[87, 91]
ALS，肌萎缩侧索硬化症； AS，反义RNA； CANVAS、小脑性共济失调神经病和前庭反射消失综合征； DM1；强直性肌营养不良1; DM2；强直性肌营养不良2; DRPLA，齿状核红核-苍白球路易体萎缩； EIEE1，早期婴儿癫痫性脑病1； FAME，家族性成人肌阵挛性癫痫； FRAXE，脆弱-XE 综合征； FRDA，弗里德赖希共济失调； FTD，额颞叶痴呆； FXS，脆性 X 综合征； FXTAS，脆性 x 震颤/共济失调综合征； HMN，遗传性运动神经病； HD，亨廷顿病； HDL2，亨廷顿病样 2； HDL1，亨廷顿病样 1； LMN，下运动神经元； NIID-- 神经元核内包涵体病； OPDM，眼咽远端肌病； OPMD-- 眼咽肌营养不良症； OPML，眼咽肌病伴白质脑病； SBMA，脊髓和延髓肌萎缩症； SCA，脊髓小脑共济失调； ULD，Unverricht-Lundborg 病； UMN，上运动神经元； XLID，x 连锁智力障碍；
a这些范围因研究而异，并且上限通常未知。值得注意的是，这些仅具有潜在致病性。健康对照人群中有一小部分（< 1%）具有扩展的等位基因，但没有临床表现。同样，低于给定范围的等位基因可能具有中间等位基因和前突变综合征
STR引起的先天性和发育性疾病。
表型 (OMIM#)基因主题致病性重复次数地点(HG38)参考
BPES
(#110100)		FOXL2G.C.G.22-24日外显子chr3138946022138946062[116]
CCHS
(#209880)		PHOX2BG.C.G.24–33外显子染色体44174597641746022[7]
数据库QD2
(#615777)		XYLT1GGC100–8005' 区域chr161747086917470967[86]
FECD3
(#613267)		TCF4热气相色谱法 > 50内含子chr18a55222184a55635956a[167]
国内生产总值总局
(#618412)		格力斯GCA > 3005' 区域chr2190880873190880920[159]
H.F.G.
(#140000)		HOXA13G.C.G.24–26外显子chr72719982727199967[50]
惠普E5
(#609637)		ZIC2G.C.G.25外显子chr139998544999985494[17]
哈桑8
(#616488)		PRDM12G.C.G.18–19外显子chr9130681606130681641[23]
防雷器1
(#186000)		霍克斯D13G.C.G.22–29外显子chr2176093058176093099[2]
XLMR
(#300123)		硫氧化物3G.C.G.15–26外显子chr3181712415181712456[89]
BPES、睑裂、内眦赘皮和上睑下垂； CCHS，先天性中枢性通气不足综合征； DBQD2，Desbuquois 发育不良 2； FECD3，福克斯内皮性角膜营养不良3； GDPAG、整体发育迟缓、进行性共济失调和谷氨酰胺升高； HFG，手足生殖器综合症； HPE5，前脑无裂畸形 5； SPD1，并指多趾症1； XLMR，x连锁智力低下
a列出整个基因的位置

4. Bloque VNTR (sentido amplio)

Minisatélites clásicos

  • Variación de número de copias sin umbral patogénico brusco
  • Modulan riesgo poligénico (INS → diabetes tipo 1) o causan enfermedad estructural (MUC1 → ADTKD)
  • Base histórica del «DNA fingerprinting» forense

Macrosatélites

— FSHD como caso paradigmático

  • D4Z4 (subtelómero 4q35): unidad de 3.3 kb
  • Normal: 11-100 copias / Patológico: ≤10 copias (FSHD1) — contracción, no expansión
  • Contracción abre cromatina → desrepresión de DUX4 (normalmente silenciado en músculo adulto) → toxicidad
  • Requiere haplotipo permisivo 4qA (misma contracción en 4qB no causa enfermedad)
  • FSHD2: array normal, pero mutación en SMCHD1 → mismo resultado (desrepresión de DUX4) por vía trans, no por contracción cis
  • No sigue anticipación genética clásica (mecanismo epigenético, no carrera de repeticiones)
  • Sí, hay un grupo pequeño pero importante de enfermedades que comparten con FSHD el mecanismo «atípico» (repetición grande, no microsatélite clásico, y/o mecanismo epigenético en vez de toxicidad directa). Las más relevantes para tu esquema:

—- Síndrome ICF (Inmunodeficiencia, Inestabilidad Centromérica, anomalías Faciales)

  • Afecta repeticiones satélite 2 y 3 (secuencias pericentroméricas, no D4Z4, pero mismo principio de macrosatélite/heterocromatina repetitiva)
  • Mecanismo: mutaciones en DNMT3B (o ZBTB24, CDCA7, HELLS) → hipometilación de estas regiones repetidas → descondensación pericentromérica → inestabilidad cromosómica
  • Es prácticamente el equivalente autosómico recesivo del mecanismo de FSHD2: falla la maquinaria que mantiene silenciada la heterocromatina repetitiva, en vez de fallar la repetición misma

—- Epilepsia mioclónica progresiva tipo 1 (Unverricht-Lundborg).

  • Gen 科学技术委员会 (cistatina B)
  • Repetición dodecámera (12 pb) en el promotor — tamaño frontera entre microsatélite y minisatélite, otro caso que no encaja limpiamente en STR clásico
  • Mecanismo: expansión (a diferencia de FSHD) pero el resultado es pérdida de función por reducción transcripcional, no toxicidad de proteína ni de ARN — la expansión en el promotor simplemente dificulta la transcripción del gen
  • Útil como contraste: expansión que causa pérdida de función pura, sin ganancia tóxica
19955111 {19955111:N989PCPW},{19955111:XHVJIQA4} 1 温哥华 50 默认 2455 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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1.
Depienne C, Mandel JL. 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? The American Journal of Human Genetics [Internet]. 2021 May 6 [cited 2021 Sept 19];108(5):764–85. Available from: https://www.sciencedirect.com/science/article/pii/S0002929721000951
1.
Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics. Acta Neuropathologica Communications [Internet]. 2021 May 25 [cited 2021 Sept 19];9(1):98. Available from: https://doi.org/10.1186/s40478-021-01201-x